Materiały źródłowe

• #1 IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0103020

  Inherited haemoglobin (Hb) disorders are the most common monogenic diseases, posing a major public health problem worldwide. It is estimated that around 5.2% of the worlds population carry a potentially pathogenic Hb gene and that, annually, over 330 thousand new-borns bear a serious Hb disease. […] Hb disorders comprise the thalassaemias, sickle-cell disease, Hb E and other, rarer disorders and are prevalent in former malaria regions in the Mediterranean, the Middle East, South-East Asia and Sub-Saharan Africa. […] Therefore, the prevalence of Hb disorders is rising in non-endemic regions, such as Northern and Western Europe and North America, posing a major challenge for researchers and health professionals. […] Herein, we present IthaGenes, a new database that addresses the above shortcomings and provides to the community a universal knowledgebase on Hb disorders.

• #2 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Due to migration patterns, thalassemia is increasingly more common in nonendemic regions, including Western Europe and North America. […] According to a 2008 report from the World Health Organization, more than 40 000 infants are born with thalassemia each year, of whom about 25 500 have transfusion-dependent thalassemia. […] The annual numbers of expected newborns with thalassemia are 20 420 in Southeast Asia, 9914 in the Eastern Mediterranean region, 1019 in Europe, and 341 in North, Central, and South Americas. […] The Greek National Registry for Hemoglobinopathies reported a significantly lower incidence of thalassemia than expected based on the prevalence of carriers, thereby demonstrating the efficacy of thalassemia prevention programs. […] A comprehensive National Hemoglobinopathy Control Program was implemented by law and came into force on October 24, 2002, in 33 provinces of Turkey and, by 2008, a 90% reduction in affected newborns in Turkey was achieved.

• #3 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  thalassemia major is an inherited hemoglobinopathy that requires lifelong red blood cell transfusions and iron chelation therapy to prevent complications due to iron overload. […] However, the prevalence of thalassemia is increasing in other regions, including Northern Europe and North America, primarily due to migration. […] The data suggest that the epidemiology of thalassemia is changing: Migration has increased the prevalence of the disease in regions traditionally believed to have a low prevalence, while, at the same time, prevention and screening programs in endemic regions have reduced the number of affected individuals. […] Historically, the prevalence of thalassemia has been highest in the Mediterranean region, the Middle East, and Southeast Asia and lowest in Northern Europe and North America.

• #4 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Due to migration patterns, thalassemia is increasingly more common in nonendemic regions, including Western Europe and North America. […] According to a 2008 report from the World Health Organization, more than 40 000 infants are born with thalassemia each year, of whom about 25 500 have transfusion-dependent thalassemia. […] The annual numbers of expected newborns with thalassemia are 20 420 in Southeast Asia, 9914 in the Eastern Mediterranean region, 1019 in Europe, and 341 in North, Central, and South Americas. […] The Greek National Registry for Hemoglobinopathies reported a significantly lower incidence of thalassemia than expected based on the prevalence of carriers, thereby demonstrating the efficacy of thalassemia prevention programs. […] A comprehensive National Hemoglobinopathy Control Program was implemented by law and came into force on October 24, 2002, in 33 provinces of Turkey and, by 2008, a 90% reduction in affected newborns in Turkey was achieved.

• #5 Beta thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Beta_thalassemia

  Beta thalassemia is particularly prevalent among the Mediterranean peoples and this geographical association is responsible for its naming: thalassa (θάλασσα) is the Greek word for sea and haima (αἷμα) is the Greek word for blood. In Europe, the highest prevalence of beta-thalassemia trait is found in Greece, Turkey, and Mediterranean islands such as Sicily, Sardinia, Corsica, Cyprus, Malta and Crete. […] Beta thalassemia is most prevalent in the „thalassemia belt” which includes areas in Sub-Saharan Africa, and the Mediterranean extending into the Middle East and Southeast Asia. This geographical distribution is thought to be due to the beta-thalassemia carrier state (beta-thalassemia minor) conferring resistance to malaria. In 2005, it was estimated that 1.5% of the world’s population are carriers and 60,000 affected infants are born with the thalassemia major annually. […] The thalassemia trait may confer a degree of protection against malaria, which is historically endemic in the regions where the trait is common. This is thought to confer a selective survival advantage on carriers (known as heterozygous advantage), thus perpetuating the mutation.

• #6 Beta thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Beta_thalassemia

  Beta thalassemia is particularly prevalent among the Mediterranean peoples and this geographical association is responsible for its naming: thalassa (θάλασσα) is the Greek word for sea and haima (αἷμα) is the Greek word for blood. In Europe, the highest prevalence of beta-thalassemia trait is found in Greece, Turkey, and Mediterranean islands such as Sicily, Sardinia, Corsica, Cyprus, Malta and Crete. […] Beta thalassemia is most prevalent in the „thalassemia belt” which includes areas in Sub-Saharan Africa, and the Mediterranean extending into the Middle East and Southeast Asia. This geographical distribution is thought to be due to the beta-thalassemia carrier state (beta-thalassemia minor) conferring resistance to malaria. In 2005, it was estimated that 1.5% of the world’s population are carriers and 60,000 affected infants are born with the thalassemia major annually. […] The thalassemia trait may confer a degree of protection against malaria, which is historically endemic in the regions where the trait is common. This is thought to confer a selective survival advantage on carriers (known as heterozygous advantage), thus perpetuating the mutation.

• #7 Alpha Thalassemia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/955496-overview

  Alpha thalassemia is among the most common single-gene disorders in the world. It is estimated that there are 270 million carriers of mutant globin genes that can potentially cause severe forms of thalassemia. In addition, 300,000-400,000 severely affected infants are born every year, more than 95% of whom are in Asia, India, and the Middle East. […] The frequency of alpha thalassemia is low among Whites, but it is estimated that about 15% of American Blacks are silent carriers of alpha thalassemia and that about 3% have alpha thalassemia trait; HbH disease is rare in the American Black population. […] Alpha thalassemia occurs in individuals of all ethnic backgrounds but particularly in those of African, Asian, Central American, Mediterranean, and Middle Eastern descent. […] According to the North American TCRN study, 59% of patients with alpha thalassemia have a single -globin gene (-/–), 8% have no -globin genes (–/–), and 33% have gene deletions in combination with structural mutations.

• #8 Beta thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Beta_thalassemia

  Beta thalassemia is particularly prevalent among the Mediterranean peoples and this geographical association is responsible for its naming: thalassa (θάλασσα) is the Greek word for sea and haima (αἷμα) is the Greek word for blood. In Europe, the highest prevalence of beta-thalassemia trait is found in Greece, Turkey, and Mediterranean islands such as Sicily, Sardinia, Corsica, Cyprus, Malta and Crete. […] Beta thalassemia is most prevalent in the „thalassemia belt” which includes areas in Sub-Saharan Africa, and the Mediterranean extending into the Middle East and Southeast Asia. This geographical distribution is thought to be due to the beta-thalassemia carrier state (beta-thalassemia minor) conferring resistance to malaria. In 2005, it was estimated that 1.5% of the world’s population are carriers and 60,000 affected infants are born with the thalassemia major annually. […] The thalassemia trait may confer a degree of protection against malaria, which is historically endemic in the regions where the trait is common. This is thought to confer a selective survival advantage on carriers (known as heterozygous advantage), thus perpetuating the mutation.

• #9 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  The disease is also found in populations living in Africa, the Americas, and in Tharu people in the Terai region of Nepal and India. It is believed to account for much lower rates of malaria illnesses and deaths, accounting for the historic ability of Tharus to survive in areas with heavy malaria infestation while others could not. Thalassemias are particularly associated with people of Mediterranean origin, Arabs (especially Palestinians and people of Palestinian descent), and Asians. The estimated prevalence is 16% in people from Cyprus, 1% in Thailand, and 38% in populations from Bangladesh, China, India, Malaysia and Pakistan. […] Estimates suggest that approximately 1.5% of the global population (80-90 million people) are beta-thalassemia carriers. However, exact data on carrier rates in many populations are lacking, particularly in developing areas of the world known or expected to be heavily affected.

• #10 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  Alpha thalassemia is prevalent in Asian and African populations while beta-thalassemia is more prevalent in the Mediterranean population, although it is relatively common in Southeast Asia and Africa too. Prevalence in these regions may be as high as 10%. The true numbers of thalassemia affected patients in the United States are unknown, as there is no effective screening method in place. […] Thalassemia is autosomal recessive, which means both the parents must be affected with or carriers for the disease to transfer it to the next generation. It is caused by mutations or deletions of the Hb genes, resulting in underproduction or absence of alpha or beta chains. There are over 200 mutations identified as the culprits for causing thalassemias.

• #11 Beta Thalassemia: Practice Essentials, Etiology, Epidemiology

  https://emedicine.medscape.com/article/206490-overview

  The frequency of beta thalassemia varies widely, depending on the ethnic population. The disease is reported most commonly in Mediterranean, African, and Southeast Asian populations. […] The disease is found most commonly in the Mediterranean region, Africa, and Southeast Asia, presumably as an adaptive association to endemic malaria. The prevalence may be as high as 10% in these areas. […] Beta thalassemia genes are reported throughout the world, although more frequently in Mediterranean, African, and Southeast Asian populations. Patients of Mediterranean extraction are more likely than Africans to be anemic with thalassemia trait, because they tend to have beta-zero thalassemia rather than beta-plus thalassemia. […] The manifestations of the disease may not be apparent until a complete switch from fetal to adult Hb synthesis occurs. This switch typically is completed by the sixth month after birth.

• #12 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  The beta form of thalassemia is particularly prevalent among Mediterranean peoples, and this geographical association is responsible for its original name. Thalassemias resulted in 25,000 deaths in 2013, down from 36,000 deaths in 1990. […] In Europe, the highest concentrations of the disease are found in Greece, coastal regions in Turkey (particularly the Aegean Region such as Ä°zmir, Balıkesir, Aydın, Muğla, and Mediterranean Region such as Antalya, Adana, Mersin), in southern Spain, in parts of Italy, particularly southern Italy. With the exception of the Balearics, the major Mediterranean Islands, such as Sicily, Sardinia, Malta, Corsica, Cyprus, and Crete are heavily affected. Other Mediterranean peoples, as well as those in the vicinity of the Mediterranean, also have high rates of thalassemia, including people from North Africa and West Asia. Far from the Mediterranean, South Asians are also affected, with the world’s highest concentration of carriers (16-18% of the population) in the Maldives.

• #13 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  The beta form of thalassemia is particularly prevalent among Mediterranean peoples, and this geographical association is responsible for its original name. Thalassemias resulted in 25,000 deaths in 2013, down from 36,000 deaths in 1990. […] In Europe, the highest concentrations of the disease are found in Greece, coastal regions in Turkey (particularly the Aegean Region such as Ä°zmir, Balıkesir, Aydın, Muğla, and Mediterranean Region such as Antalya, Adana, Mersin), in southern Spain, in parts of Italy, particularly southern Italy. With the exception of the Balearics, the major Mediterranean Islands, such as Sicily, Sardinia, Malta, Corsica, Cyprus, and Crete are heavily affected. Other Mediterranean peoples, as well as those in the vicinity of the Mediterranean, also have high rates of thalassemia, including people from North Africa and West Asia. Far from the Mediterranean, South Asians are also affected, with the world’s highest concentration of carriers (16-18% of the population) in the Maldives.

• #14 Thalassemia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Thalassemia_epidemiology_and_demographics

  The carrier rate of beta-thalassemia in Cyprus is estimated to be 12,000 to 15,000 per 100,000 persons. […] The carrier rate of beta-thalassemia in Greece is estimated to be 7,400 per 100,000 persons. […] The carrier rate of beta-thalassemia in Turkey is estimated to be 600 to 13,000 per 100,000 persons. […] In Turkey, approximately 1.6 million people (of 80 million) have thalassemia trait. […] In Turkey, approximately 5,500 people are homozygous for thalassemia. […] Thalassemia is the most common monogenic disease in Iran.

• #15 Thalassemia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Thalassemia_epidemiology_and_demographics

  The carrier rate of beta-thalassemia in Cyprus is estimated to be 12,000 to 15,000 per 100,000 persons. […] The carrier rate of beta-thalassemia in Greece is estimated to be 7,400 per 100,000 persons. […] The carrier rate of beta-thalassemia in Turkey is estimated to be 600 to 13,000 per 100,000 persons. […] In Turkey, approximately 1.6 million people (of 80 million) have thalassemia trait. […] In Turkey, approximately 5,500 people are homozygous for thalassemia. […] Thalassemia is the most common monogenic disease in Iran.

• #16 Thalassemia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Thalassemia_epidemiology_and_demographics

  The carrier rate of beta-thalassemia in Cyprus is estimated to be 12,000 to 15,000 per 100,000 persons. […] The carrier rate of beta-thalassemia in Greece is estimated to be 7,400 per 100,000 persons. […] The carrier rate of beta-thalassemia in Turkey is estimated to be 600 to 13,000 per 100,000 persons. […] In Turkey, approximately 1.6 million people (of 80 million) have thalassemia trait. […] In Turkey, approximately 5,500 people are homozygous for thalassemia. […] Thalassemia is the most common monogenic disease in Iran.

• #17 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Thalassemia-Prevalence.aspx

  Thalassemia affects approximately 4.4 out of every 10,000 live births throughout the world. […] Approximately 5% of the worldwide population has a variation in the alpha or beta part of the hemoglobin molecule, although not all of these are symptomatic and some are known as silent carriers. […] However, particular ethnic groups are more likely to be affected, with between 5% and 30% of these populations experiencing symptoms of thalassemia. […] Alpha-thalassemia is particularly common among certain populations of Southeast Asian descent. […] The prevalence of different population groups according to the geographical area of the world include: […] Beta-thalassemia is the most common form of thalassemia among populations of Mediterranean, African, and South Asian ancestry. […] Both alpha- and beta-thalassemia are more prevalent in tropical and subtropical regions of the world, particularly where malaria is or has been endemic. […] The Maldives has a particularly high prevalence of thalassemia in Asia, with about 16% of the population reported having this condition. […] All types of thalassemia can be fatal in some cases, particularly when there are multiple gene mutations that affect the production of the globin chains.

• #18 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Thalassemia-Prevalence.aspx

  Thalassemia affects approximately 4.4 out of every 10,000 live births throughout the world. […] Approximately 5% of the worldwide population has a variation in the alpha or beta part of the hemoglobin molecule, although not all of these are symptomatic and some are known as silent carriers. […] However, particular ethnic groups are more likely to be affected, with between 5% and 30% of these populations experiencing symptoms of thalassemia. […] Alpha-thalassemia is particularly common among certain populations of Southeast Asian descent. […] The prevalence of different population groups according to the geographical area of the world include: […] Beta-thalassemia is the most common form of thalassemia among populations of Mediterranean, African, and South Asian ancestry. […] Both alpha- and beta-thalassemia are more prevalent in tropical and subtropical regions of the world, particularly where malaria is or has been endemic. […] The Maldives has a particularly high prevalence of thalassemia in Asia, with about 16% of the population reported having this condition. […] All types of thalassemia can be fatal in some cases, particularly when there are multiple gene mutations that affect the production of the globin chains.

• #19 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  The disease is also found in populations living in Africa, the Americas, and in Tharu people in the Terai region of Nepal and India. It is believed to account for much lower rates of malaria illnesses and deaths, accounting for the historic ability of Tharus to survive in areas with heavy malaria infestation while others could not. Thalassemias are particularly associated with people of Mediterranean origin, Arabs (especially Palestinians and people of Palestinian descent), and Asians. The estimated prevalence is 16% in people from Cyprus, 1% in Thailand, and 38% in populations from Bangladesh, China, India, Malaysia and Pakistan. […] Estimates suggest that approximately 1.5% of the global population (80-90 million people) are beta-thalassemia carriers. However, exact data on carrier rates in many populations are lacking, particularly in developing areas of the world known or expected to be heavily affected.

• #20 β-thalassaemia: Social Impacts and Patient Quality of Life…

  https://www.emjreviews.com/hematology/article/social-impact-and-quality-of-life-of-patients-with-%CE%B2-thalassaemia-a-systematic-review-j060121/

  In the world, the Republic of Maldives has the highest incidence of thalassaemia, with an 18% carrier rate of the population. […] Although BT is relatively rare in the USA, there are an estimated 1.25 million carriers, making up 0.4% of the population. […] Additionally, it is estimated that the number of newborns affected each year by BT in the countries of the Mediterranean Basin will increase from 2,479 in 2020 to 2,899 in 2050, for annual average growth of 0.5% over 30 years. […] The serious nature of the disease in its most severe form and its wide diffusion imply a social, psychological, and economic impact on the community and healthcare system. […] The results indicate consistent agreement in observing that the health and social scores obtained from the various investigations carried out on patients with BT are considerably lower compared with the healthy population.

• #21 Thalassemia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Thalassemia_epidemiology_and_demographics

  Overall, thalassemia is a rare condition with a low incidence and prevalence in the United States. However, non-US countries have a higher incidence and prevalence. These include countries of the Mediterranean basis and Southeast Asia. The exact incidence and prevalence are unknown, but various estimates have been reported. […] The incidence of thalassemia is about 300,000 to 400,000 per year. […] The incidence of beta-thalassemia is 42,000 per year. […] Worldwide, the prevalence of thalassemia 3000 per 100000. […] The estimated prevalence of thalassemia worldwide is 300,000,000. […] Beta thalassemia carriers are approximately 1.5% of the world population. […] Almost 90% patients with beta thalassemia live in geographic belt extending from Africa to Southern Europe and the middle east extending to southeast Asia. The estimated prevalence of thalassemias is 16% in people from Cyprus, 3-14% in Thailand, and 3-8% in populations from India, Pakistan, Bangladesh, Malaysia and China.

• #22 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  The disease is also found in populations living in Africa, the Americas, and in Tharu people in the Terai region of Nepal and India. It is believed to account for much lower rates of malaria illnesses and deaths, accounting for the historic ability of Tharus to survive in areas with heavy malaria infestation while others could not. Thalassemias are particularly associated with people of Mediterranean origin, Arabs (especially Palestinians and people of Palestinian descent), and Asians. The estimated prevalence is 16% in people from Cyprus, 1% in Thailand, and 38% in populations from Bangladesh, China, India, Malaysia and Pakistan. […] Estimates suggest that approximately 1.5% of the global population (80-90 million people) are beta-thalassemia carriers. However, exact data on carrier rates in many populations are lacking, particularly in developing areas of the world known or expected to be heavily affected.

• #23 Thalassemia epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Thalassemia_epidemiology_and_demographics

  Overall, thalassemia is a rare condition with a low incidence and prevalence in the United States. However, non-US countries have a higher incidence and prevalence. These include countries of the Mediterranean basis and Southeast Asia. The exact incidence and prevalence are unknown, but various estimates have been reported. […] The incidence of thalassemia is about 300,000 to 400,000 per year. […] The incidence of beta-thalassemia is 42,000 per year. […] Worldwide, the prevalence of thalassemia 3000 per 100000. […] The estimated prevalence of thalassemia worldwide is 300,000,000. […] Beta thalassemia carriers are approximately 1.5% of the world population. […] Almost 90% patients with beta thalassemia live in geographic belt extending from Africa to Southern Europe and the middle east extending to southeast Asia. The estimated prevalence of thalassemias is 16% in people from Cyprus, 3-14% in Thailand, and 3-8% in populations from India, Pakistan, Bangladesh, Malaysia and China.

• #24 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  Alpha thalassemia is prevalent in Asian and African populations while beta-thalassemia is more prevalent in the Mediterranean population, although it is relatively common in Southeast Asia and Africa too. Prevalence in these regions may be as high as 10%. The true numbers of thalassemia affected patients in the United States are unknown, as there is no effective screening method in place. […] Thalassemia is autosomal recessive, which means both the parents must be affected with or carriers for the disease to transfer it to the next generation. It is caused by mutations or deletions of the Hb genes, resulting in underproduction or absence of alpha or beta chains. There are over 200 mutations identified as the culprits for causing thalassemias.

• #25 Alpha Thalassemia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/955496-overview

  Alpha thalassemia is among the most common single-gene disorders in the world. It is estimated that there are 270 million carriers of mutant globin genes that can potentially cause severe forms of thalassemia. In addition, 300,000-400,000 severely affected infants are born every year, more than 95% of whom are in Asia, India, and the Middle East. […] The frequency of alpha thalassemia is low among Whites, but it is estimated that about 15% of American Blacks are silent carriers of alpha thalassemia and that about 3% have alpha thalassemia trait; HbH disease is rare in the American Black population. […] Alpha thalassemia occurs in individuals of all ethnic backgrounds but particularly in those of African, Asian, Central American, Mediterranean, and Middle Eastern descent. […] According to the North American TCRN study, 59% of patients with alpha thalassemia have a single -globin gene (-/–), 8% have no -globin genes (–/–), and 33% have gene deletions in combination with structural mutations.

• #26 Alpha Thalassemia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/955496-overview

  Alpha thalassemia is common throughout parts of the world where malaria is endemic. Multiple studies have suggested that the presence of both single and double -globin gene deletions has a protective effect against malaria. […] The frequency of alpha thalassemia alleles is 5-10% in the Mediterranean basin, 20-30% in portions of West Africa, and as high as 60-80% in some populations in Saudi Arabia, India, Thailand, Papua New Guinea, and Melanesia. […] The frequency of heterozygote carrier status among the Chinese population has been reported to range from 5-15%. The frequency of alpha thalassemia is lower than 0.01% in Great Britain, Iceland, and Japan.

• #27 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  Alpha thalassemia is prevalent in Asian and African populations while beta-thalassemia is more prevalent in the Mediterranean population, although it is relatively common in Southeast Asia and Africa too. Prevalence in these regions may be as high as 10%. The true numbers of thalassemia affected patients in the United States are unknown, as there is no effective screening method in place. […] Thalassemia is autosomal recessive, which means both the parents must be affected with or carriers for the disease to transfer it to the next generation. It is caused by mutations or deletions of the Hb genes, resulting in underproduction or absence of alpha or beta chains. There are over 200 mutations identified as the culprits for causing thalassemias.

• #28 Beta Thalassemia: Practice Essentials, Etiology, Epidemiology

  https://emedicine.medscape.com/article/206490-overview

  The frequency of beta thalassemia varies widely, depending on the ethnic population. The disease is reported most commonly in Mediterranean, African, and Southeast Asian populations. […] The disease is found most commonly in the Mediterranean region, Africa, and Southeast Asia, presumably as an adaptive association to endemic malaria. The prevalence may be as high as 10% in these areas. […] Beta thalassemia genes are reported throughout the world, although more frequently in Mediterranean, African, and Southeast Asian populations. Patients of Mediterranean extraction are more likely than Africans to be anemic with thalassemia trait, because they tend to have beta-zero thalassemia rather than beta-plus thalassemia. […] The manifestations of the disease may not be apparent until a complete switch from fetal to adult Hb synthesis occurs. This switch typically is completed by the sixth month after birth.

• #29 Beta Thalassemia: Practice Essentials, Etiology, Epidemiology

  https://emedicine.medscape.com/article/206490-overview

  The frequency of beta thalassemia varies widely, depending on the ethnic population. The disease is reported most commonly in Mediterranean, African, and Southeast Asian populations. […] The disease is found most commonly in the Mediterranean region, Africa, and Southeast Asia, presumably as an adaptive association to endemic malaria. The prevalence may be as high as 10% in these areas. […] Beta thalassemia genes are reported throughout the world, although more frequently in Mediterranean, African, and Southeast Asian populations. Patients of Mediterranean extraction are more likely than Africans to be anemic with thalassemia trait, because they tend to have beta-zero thalassemia rather than beta-plus thalassemia. […] The manifestations of the disease may not be apparent until a complete switch from fetal to adult Hb synthesis occurs. This switch typically is completed by the sixth month after birth.

• #30 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Due to migration patterns, thalassemia is increasingly more common in nonendemic regions, including Western Europe and North America. […] According to a 2008 report from the World Health Organization, more than 40 000 infants are born with thalassemia each year, of whom about 25 500 have transfusion-dependent thalassemia. […] The annual numbers of expected newborns with thalassemia are 20 420 in Southeast Asia, 9914 in the Eastern Mediterranean region, 1019 in Europe, and 341 in North, Central, and South Americas. […] The Greek National Registry for Hemoglobinopathies reported a significantly lower incidence of thalassemia than expected based on the prevalence of carriers, thereby demonstrating the efficacy of thalassemia prevention programs. […] A comprehensive National Hemoglobinopathy Control Program was implemented by law and came into force on October 24, 2002, in 33 provinces of Turkey and, by 2008, a 90% reduction in affected newborns in Turkey was achieved.

• #31 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  In the United States, thalassemia remains a rare disease; in the state of California, the reported incidence is 1 in 55 000 newborns. […] The prevalence and carrier rates of thalassemia are relatively high in Southeast Asia. […] In the Middle East, the prevalence of thalassemia is traditionally high due in part to a high carrier rate and a cultural preference for consanguineous marriages. […] However, the introduction of prevention programs in many countries in this region has led to a decrease in prevalence over the last decades. […] In some European countries, the prevalence of thalassemia and other major hemoglobinopathies is increasing due to migration, and major hemoglobinopathies are now the most common genetic rare disease in Europe. […] The effect of migration is illustrated by the increased prevalence of thalassemia observed in the United Kingdom.

• #32 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  In the United States, thalassemia remains a rare disease; in the state of California, the reported incidence is 1 in 55 000 newborns. […] The prevalence and carrier rates of thalassemia are relatively high in Southeast Asia. […] In the Middle East, the prevalence of thalassemia is traditionally high due in part to a high carrier rate and a cultural preference for consanguineous marriages. […] However, the introduction of prevention programs in many countries in this region has led to a decrease in prevalence over the last decades. […] In some European countries, the prevalence of thalassemia and other major hemoglobinopathies is increasing due to migration, and major hemoglobinopathies are now the most common genetic rare disease in Europe. […] The effect of migration is illustrated by the increased prevalence of thalassemia observed in the United Kingdom.

• #33 Alpha- and Beta-thalassemia: Rapid Evidence Review | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0300/p272.html

  Thalassemia prevalence is highest in Africa, India, the Mediterranean, the Middle East, and Southeast Asia. Incidence in these regions may be decreasing because of prevention programs involving premarital and preconception counseling and testing. Approximately 5% and 1.5% of the world population are carriers of alpha- and beta-thalassemia, respectively. Thalassemia affects 6 per 100,000 conceptions in the Americas. Data specific to the United States are lacking, but California has an estimated incidence of 1 in 10,000 and 1 in 55,000 for alpha- and beta-thalassemia, respectively. […] Genetic counseling and screening in high-risk populations can assist in reducing the prevalence of thalassemia.

• #34 Newborn Screening Practices and Alpha-Thalassemia Detection — United States, 2016 | MMWR

  https://www.cdc.gov/mmwr/volumes/69/wr/mm6936a7.htm

  These survey findings highlight the opportunity for newborn screening programs to revisit their policies as they reevaluate their practices in light of the recently released guideline from the Clinical and Laboratory Standards Institute (CLSI) on Newborn Screening for Hemoglobinopathies. […] Standardization of screening and reporting might lead to more timely diagnoses and health care services and improved outcomes for persons with a clinically significant alpha-thalassemia. […] Public health data for the United States are lacking, but in California, 1 in 10,000 newborns has an alpha-thalassemia syndrome. […] The potential impact of working to standardize newborn screening for alpha-thalassemia extends far beyond the identification during infancy of those with disease states, as well as those who are carriers.

• #35 Our Focus: Transfusion-Dependent Beta-Thalassemia (TDT) | bluebird bio

  https://www.bluebirdbio.com/our-focus/beta-thalassemia

  Despite the significant treatment burden, the condition isn’t widely known. As a rare disease, it affects approximately 1,300 people in the U.S. […] It is estimated that approximately 1,300 people in the U.S. live with the most severe form of beta-thal, however the exact prevalence is not known. The disease is most common among individuals of Mediterranean, South Asian, and Middle Eastern descent. […] Symptoms of severe anemia manifest early in life and most people with the severe form of beta-thal those who rely on regular blood transfusions are typically diagnosed in childhood. […] Initially, beta-thal is diagnosed through an examination of the blood, including a complete blood count and specific hemoglobin analysis.

• #36 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  In the United States, thalassemia remains a rare disease; in the state of California, the reported incidence is 1 in 55 000 newborns. […] The prevalence and carrier rates of thalassemia are relatively high in Southeast Asia. […] In the Middle East, the prevalence of thalassemia is traditionally high due in part to a high carrier rate and a cultural preference for consanguineous marriages. […] However, the introduction of prevention programs in many countries in this region has led to a decrease in prevalence over the last decades. […] In some European countries, the prevalence of thalassemia and other major hemoglobinopathies is increasing due to migration, and major hemoglobinopathies are now the most common genetic rare disease in Europe. […] The effect of migration is illustrated by the increased prevalence of thalassemia observed in the United Kingdom.

• #37 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Currently, most patients with thalassemia in the United Kingdom have a Pakistani or Indian background. […] The changing patterns of thalassemia prevalence in different parts of the world are mainly affected by changes in the number of births of new patients and are largely influenced by prevention programs, population migration, and improved survival of patients with thalassemia. […] As long as migration to these regions continues, for example, due to economic, social, or environmental reasons, the prevalence of thalassemia will continue to increase until the point is reached where large-scale preventive measures are implemented. […] Overall, thalassemia screening programs have reduced the number of affected births, particularly in countries where thalassemia is prevalent. […] An increasing number of informed couples, however, complete at-risk pregnancies due to the growing availability of supportive treatments (eg, red blood cell transfusions, oral ICT), approved therapies (eg, luspatercept), and curative options (eg, bone marrow transplantation).

• #38

  https://www.gov.uk/guidance/haemoglobin-disorders-migrant-health-guide

  Be alert to the possibility of haemoglobin disorders in patients from affected parts of the world. […] The main approach to the prevention of haemoglobin disorders is genetic screening and counselling. […] NICE guidelines recommend antenatal screening for sickle cell diseases and/or thalassaemias for at risk women by 10 weeks of gestation. […] The thalassaemias are a group of genetic disorders characterised by a decreased or absence of synthesis of polypeptide chains that form normal haemoglobin. […] Beta thalassaemia is prevalent in areas around the Mediterranean, in the Middle East, in Central, South, and South East Asia, and in Southern China; alpha thalassaemia is prevalent in South East Asia, Africa, and India. […] In England approximately 1,000 people are affected by thalassaemia with around 214,000 carriers. […] Patients diagnosed with thalassaemia should be referred to specialist services for management.

• #39 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Currently, most patients with thalassemia in the United Kingdom have a Pakistani or Indian background. […] The changing patterns of thalassemia prevalence in different parts of the world are mainly affected by changes in the number of births of new patients and are largely influenced by prevention programs, population migration, and improved survival of patients with thalassemia. […] As long as migration to these regions continues, for example, due to economic, social, or environmental reasons, the prevalence of thalassemia will continue to increase until the point is reached where large-scale preventive measures are implemented. […] Overall, thalassemia screening programs have reduced the number of affected births, particularly in countries where thalassemia is prevalent. […] An increasing number of informed couples, however, complete at-risk pregnancies due to the growing availability of supportive treatments (eg, red blood cell transfusions, oral ICT), approved therapies (eg, luspatercept), and curative options (eg, bone marrow transplantation).

• #40 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Due to migration patterns, thalassemia is increasingly more common in nonendemic regions, including Western Europe and North America. […] According to a 2008 report from the World Health Organization, more than 40 000 infants are born with thalassemia each year, of whom about 25 500 have transfusion-dependent thalassemia. […] The annual numbers of expected newborns with thalassemia are 20 420 in Southeast Asia, 9914 in the Eastern Mediterranean region, 1019 in Europe, and 341 in North, Central, and South Americas. […] The Greek National Registry for Hemoglobinopathies reported a significantly lower incidence of thalassemia than expected based on the prevalence of carriers, thereby demonstrating the efficacy of thalassemia prevention programs. […] A comprehensive National Hemoglobinopathy Control Program was implemented by law and came into force on October 24, 2002, in 33 provinces of Turkey and, by 2008, a 90% reduction in affected newborns in Turkey was achieved.

• #41 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Due to migration patterns, thalassemia is increasingly more common in nonendemic regions, including Western Europe and North America. […] According to a 2008 report from the World Health Organization, more than 40 000 infants are born with thalassemia each year, of whom about 25 500 have transfusion-dependent thalassemia. […] The annual numbers of expected newborns with thalassemia are 20 420 in Southeast Asia, 9914 in the Eastern Mediterranean region, 1019 in Europe, and 341 in North, Central, and South Americas. […] The Greek National Registry for Hemoglobinopathies reported a significantly lower incidence of thalassemia than expected based on the prevalence of carriers, thereby demonstrating the efficacy of thalassemia prevention programs. […] A comprehensive National Hemoglobinopathy Control Program was implemented by law and came into force on October 24, 2002, in 33 provinces of Turkey and, by 2008, a 90% reduction in affected newborns in Turkey was achieved.

• #42 Epidemiological Investigation of a Twenty-Year Major β-Thalassemia Surveillance in Kerman Iran – Archives of Hygiene Sciences

  https://jhygiene.muq.ac.ir/browse.php?a_id=466&slc_lang=en&sid=1&ftxt=1&html=1

  As a result, the rate of MBT incidences has decreased to 80% cases throughout the country so far, with 1,000 cases per year to less than 200 ones. […] However, in spite of the implementation of controlling and preventive programs, new cases of MBT have been reported in some regions of Iran, including Sistan and Baluchestan, Khuzestan, Hormozgan, and Kerman. […] Kerman province, located in the southeast of Iran, is one of the regions in which thalassemia is highly prevalent. […] The identification causes leading to MBT can help in planning and decision-making regarding the incidence reduction of this disease. […] This study was conducted from 1998-2018 to determine the incidence rate of MBT and identify the factors associated with its incidence in Kerman despite the implementation of controlling strategies.

• #43 β-thalassaemia: Social Impacts and Patient Quality of Life…

  https://www.emjreviews.com/hematology/article/social-impact-and-quality-of-life-of-patients-with-%CE%B2-thalassaemia-a-systematic-review-j060121/

  The challenges faced by these patients affect all aspects of their lives economically, physically, socially, and educationally. […] The rare nature of the disease hinders the research for a definitive cure, despite recent technological advances and promising results from ongoing trials. […] A crucial contribution is provided by prevention programmes such as population screening, parental education, pre-natal diagnosis, and genetic counselling, which support raising awareness of the severity and complications of the disease and have been successfully implemented in several disease-prone areas worldwide.

• #44 β-thalassaemia: Social Impacts and Patient Quality of Life…

  https://www.emjreviews.com/hematology/article/social-impact-and-quality-of-life-of-patients-with-%CE%B2-thalassaemia-a-systematic-review-j060121/

  The challenges faced by these patients affect all aspects of their lives economically, physically, socially, and educationally. […] The rare nature of the disease hinders the research for a definitive cure, despite recent technological advances and promising results from ongoing trials. […] A crucial contribution is provided by prevention programmes such as population screening, parental education, pre-natal diagnosis, and genetic counselling, which support raising awareness of the severity and complications of the disease and have been successfully implemented in several disease-prone areas worldwide.

• #45 Alpha- and Beta-thalassemia: Rapid Evidence Review | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0300/p272.html

  Thalassemia prevalence is highest in Africa, India, the Mediterranean, the Middle East, and Southeast Asia. Incidence in these regions may be decreasing because of prevention programs involving premarital and preconception counseling and testing. Approximately 5% and 1.5% of the world population are carriers of alpha- and beta-thalassemia, respectively. Thalassemia affects 6 per 100,000 conceptions in the Americas. Data specific to the United States are lacking, but California has an estimated incidence of 1 in 10,000 and 1 in 55,000 for alpha- and beta-thalassemia, respectively. […] Genetic counseling and screening in high-risk populations can assist in reducing the prevalence of thalassemia.

• #46 Thalassemia: An Extensive Analysis of Epidemiology, Diagnosis, and Treatment Approaches

  https://www.ijsrtjournal.com/article/Thalassemia+An+Extensive+Analysis+of+Epidemiology+Diagnosis+and+Treatment+Approaches

  56,000 pregnancies worldwide result in a severe thalassemic condition, of which approximately 30,000 have BTM and 3500 pass away during pregnancy due to hydrops fetalis syndrome. […] Offering prospective genetic counseling and informing carriers of the dangers of intra marriage are crucial in nations with high thalassemia incidence. […] Attempts to use this strategy have so far been largely unsuccessful. […] As a result, programs for prenatal diagnosis have received a lot of attention. […] Due to the easy identification of thalassemia carrier states, affected fetuses can be diagnosed. […] Recent efforts have concentrated on early diagnosis by using embryonic fluid cells for fetal genetic testing or chorionic villus collection. […] The biggest difficulty for the coming years is the implementation of national prevention campaigns in areas like the Middle East, the Indian subcontinent, where thalassemias are prevalent.

• #47 Alpha- and Beta-thalassemia: Rapid Evidence Review | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0300/p272.html

  Thalassemia prevalence is highest in Africa, India, the Mediterranean, the Middle East, and Southeast Asia. Incidence in these regions may be decreasing because of prevention programs involving premarital and preconception counseling and testing. Approximately 5% and 1.5% of the world population are carriers of alpha- and beta-thalassemia, respectively. Thalassemia affects 6 per 100,000 conceptions in the Americas. Data specific to the United States are lacking, but California has an estimated incidence of 1 in 10,000 and 1 in 55,000 for alpha- and beta-thalassemia, respectively. […] Genetic counseling and screening in high-risk populations can assist in reducing the prevalence of thalassemia.

• #48 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Currently, most patients with thalassemia in the United Kingdom have a Pakistani or Indian background. […] The changing patterns of thalassemia prevalence in different parts of the world are mainly affected by changes in the number of births of new patients and are largely influenced by prevention programs, population migration, and improved survival of patients with thalassemia. […] As long as migration to these regions continues, for example, due to economic, social, or environmental reasons, the prevalence of thalassemia will continue to increase until the point is reached where large-scale preventive measures are implemented. […] Overall, thalassemia screening programs have reduced the number of affected births, particularly in countries where thalassemia is prevalent. […] An increasing number of informed couples, however, complete at-risk pregnancies due to the growing availability of supportive treatments (eg, red blood cell transfusions, oral ICT), approved therapies (eg, luspatercept), and curative options (eg, bone marrow transplantation).

• #49 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Although many countries have effective screening and prevention programs in place, increased focus on education and awareness is needed to identify patients and carriers and provide all patients with the care they need, in addition to offering at-risk couples options to prevent future affected offspring.

• #50 Newborn Screening Practices and Alpha-Thalassemia Detection — United States, 2016 | MMWR

  https://www.cdc.gov/mmwr/volumes/69/wr/mm6936a7.htm

  Despite a 5% global prevalence, alpha-thalassemia is not a core condition on the United States Recommended Uniform Screening Panel for state newborn screening (NBS) programs. […] A 2016 survey of NBS programs found that although most programs report at least one form of suspected alpha-thalassemia, the methodologies, thresholds used, forms of disease reported, and processes for reporting vary widely. […] Standardization of technical and reporting procedures could provide data to better understand the public health impact and clinical outcomes of alpha-thalassemia, ensure appropriate health care, and improve outcomes. […] The Association of Public Health Laboratories Hemoglobinopathy Workgroup conducted a survey of state newborn screening programs alpha-thalassemia screening methodologies and reporting and follow-up practices.

• #51 SciELO – Public Health – A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

  https://www.scielosp.org/article/bwho/2001.v79n11/1006-1013/

  A national register for surveillance of inherited disorders: b thalassaemia in the United Kingdom […] To demonstrate the value of a national register for surveillance of services for an inherited disorder. […] Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with b thalassaemia major, b thalassaemia intermedia, or haemoglobin E/b thalassaemia in the United Kingdom. […] A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. […] In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services.

• #52 SciELO – Public Health – A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

  https://www.scielosp.org/article/bwho/2001.v79n11/1006-1013/

  The United Kingdom Thalassaemia Register has been able to track changes in the geographical distribution and ethnic composition of the group of patients affected. […] A national diagnosis register is a powerful instrument for national surveillance of an inherited disorder. Together the United Kingdom’s Thalassaemia Register and the Register of Prenatal Diagnosis for Haemoglobin Disorders constitute a single „diagnosis register”.

• #53 SciELO – Public Health – A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

  https://www.scielosp.org/article/bwho/2001.v79n11/1006-1013/

  The United Kingdom Thalassaemia Register has been able to track changes in the geographical distribution and ethnic composition of the group of patients affected. […] A national diagnosis register is a powerful instrument for national surveillance of an inherited disorder. Together the United Kingdom’s Thalassaemia Register and the Register of Prenatal Diagnosis for Haemoglobin Disorders constitute a single „diagnosis register”.

• #54 SciELO – Public Health – A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

  https://www.scielosp.org/article/bwho/2001.v79n11/1006-1013/

  A national register for surveillance of inherited disorders: b thalassaemia in the United Kingdom […] To demonstrate the value of a national register for surveillance of services for an inherited disorder. […] Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with b thalassaemia major, b thalassaemia intermedia, or haemoglobin E/b thalassaemia in the United Kingdom. […] A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. […] In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services.

• #55 IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0103020

  IthaGenes is integrated in the ITHANET community portal, an expanding resource for clinicians and researchers dealing with Hb disorders. […] IthaMaps (http://www.ithanet.eu/db/ithamaps) is an interactive map tool that displays epidemiological data concerning Hb disorders. […] On 12 June 2014, IthaMaps included epidemiological data for 127 globin gene causative mutations in 56 countries, extracted from 89 individual publications. […] Although some of the reported data are extracted from old publications, the information stored in IthaMaps are considered the best available epidemiological information in many countries in a recent textbook by the Thalassaemia International Federation. […] IthaGenes provides clinical data, such as high-performance liquid chromatography (HPLC) sample images for globin variants, and embeds the National Center for Biotechnology Information (NCBI) Sequence Viewer to display each variation in the context of its latest sequence annotations. […] Future improvements of IthaGenes include the incorporation of more detailed information about the clinical phenotype observed for each variation, sequence-based search functionality and the inclusion of a larger number of trans-acting genes in the database.

• #56 IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0103020

  IthaGenes is integrated in the ITHANET community portal, an expanding resource for clinicians and researchers dealing with Hb disorders. […] IthaMaps (http://www.ithanet.eu/db/ithamaps) is an interactive map tool that displays epidemiological data concerning Hb disorders. […] On 12 June 2014, IthaMaps included epidemiological data for 127 globin gene causative mutations in 56 countries, extracted from 89 individual publications. […] Although some of the reported data are extracted from old publications, the information stored in IthaMaps are considered the best available epidemiological information in many countries in a recent textbook by the Thalassaemia International Federation. […] IthaGenes provides clinical data, such as high-performance liquid chromatography (HPLC) sample images for globin variants, and embeds the National Center for Biotechnology Information (NCBI) Sequence Viewer to display each variation in the context of its latest sequence annotations. […] Future improvements of IthaGenes include the incorporation of more detailed information about the clinical phenotype observed for each variation, sequence-based search functionality and the inclusion of a larger number of trans-acting genes in the database.

• #57 Current status and trends in thalassemia burden across South, East and Southeast Asia, 1990–2021 a systematic analysis for the global burden of disease study 2021 | BMC Public Health | Full Text

  https://bmcpublichealth.biomedcentral.com/articles/10.1186/s12889-024-20983-y

  Thalassemia, an inherited hemoglobin synthesis disorder, imposes a significant health burden in Asian regions with high prevalence. […] Data on thalassemia prevalence, incidence, mortality, and Disability-Adjusted Life Years (DALYs) were extracted from the Global Burden of Disease (GBD) 2021 study for South, East, Southeast, and high-income Asia regions, encompassing the relevant countries and territories from 1990 to 2021. […] Southeast Asia exhibited notably high age-standardized mortality rate (ASMR), age-standardized prevalence rate (ASPR), and age-standardized DALYs rate among the four studied Asian regions in 2021. […] A general decline in disease burden indices across the four regions from 1990 to 2021 was evident, with the exception of ASIR in Southeast Asia. […] Although the overall burden of thalassemia has decreased substantially, the disease burden was influenced by gender, age, geography, temporal trends, and economic factors in distinct manners.

• #58 Current status and trends in thalassemia burden across South, East and Southeast Asia, 1990–2021 a systematic analysis for the global burden of disease study 2021 | BMC Public Health | Full Text

  https://bmcpublichealth.biomedcentral.com/articles/10.1186/s12889-024-20983-y

  This study utilized thalassemia data from the Global Burden of Disease Study 2021 (GBD 2021), which is publicly accessible. […] Our analysis extracted estimates and their corresponding 95% uncertainty intervals (UIs) for 1990-2021 thalassemias prevalence, incidence, mortality, years of life lost (YLLs), years of life lived with disability (YLDs), and Disability-Adjusted Life Years (DALYs) in all ages and sex group from the GBD 2021 dataset. […] We prioritized the geographical representativeness of sites and the integrality of the data, four GBD regions have been choose because of the high prevalence as the previously reported. […] Our study further explored the demographic factors influencing the impact of thalassemia, focusing on the distribution of the disease burden across various age cohorts and between genders.

• #59 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  thalassemia major is an inherited hemoglobinopathy that requires lifelong red blood cell transfusions and iron chelation therapy to prevent complications due to iron overload. […] However, the prevalence of thalassemia is increasing in other regions, including Northern Europe and North America, primarily due to migration. […] The data suggest that the epidemiology of thalassemia is changing: Migration has increased the prevalence of the disease in regions traditionally believed to have a low prevalence, while, at the same time, prevention and screening programs in endemic regions have reduced the number of affected individuals. […] Historically, the prevalence of thalassemia has been highest in the Mediterranean region, the Middle East, and Southeast Asia and lowest in Northern Europe and North America.

• #60 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Currently, most patients with thalassemia in the United Kingdom have a Pakistani or Indian background. […] The changing patterns of thalassemia prevalence in different parts of the world are mainly affected by changes in the number of births of new patients and are largely influenced by prevention programs, population migration, and improved survival of patients with thalassemia. […] As long as migration to these regions continues, for example, due to economic, social, or environmental reasons, the prevalence of thalassemia will continue to increase until the point is reached where large-scale preventive measures are implemented. […] Overall, thalassemia screening programs have reduced the number of affected births, particularly in countries where thalassemia is prevalent. […] An increasing number of informed couples, however, complete at-risk pregnancies due to the growing availability of supportive treatments (eg, red blood cell transfusions, oral ICT), approved therapies (eg, luspatercept), and curative options (eg, bone marrow transplantation).

• #61 Thalassemia: An Extensive Analysis of Epidemiology, Diagnosis, and Treatment Approaches

  https://www.ijsrtjournal.com/article/Thalassemia+An+Extensive+Analysis+of+Epidemiology+Diagnosis+and+Treatment+Approaches

  Thalassemia comprises a spectrum of genetic hemoglobin disorders due to impaired or complete loss of the synthesize one or more globin chains, thus leading to chronic hemolytic anemia with different degrees of clinical severity. […] Here, thalassemia is reviewed fully from its inception in history up to the modern world’s overall epidemiology of thalassemia specifically within areas such as the Middle East, the Mediterranean, and South Asia. […] People from the Mediterranean, Middle East, Transcaucasus, Central Asia, Indian subcontinent, and Far East have thalassemia, one of the most prevalent autosomal recessive illnesses in the world. However, populations in Africa also have a substantial amount of them. […] Thalassemias are currently common in Australia, North Central and South America, and Northern Europe as a result of population migration.

• #62 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Currently, most patients with thalassemia in the United Kingdom have a Pakistani or Indian background. […] The changing patterns of thalassemia prevalence in different parts of the world are mainly affected by changes in the number of births of new patients and are largely influenced by prevention programs, population migration, and improved survival of patients with thalassemia. […] As long as migration to these regions continues, for example, due to economic, social, or environmental reasons, the prevalence of thalassemia will continue to increase until the point is reached where large-scale preventive measures are implemented. […] Overall, thalassemia screening programs have reduced the number of affected births, particularly in countries where thalassemia is prevalent. […] An increasing number of informed couples, however, complete at-risk pregnancies due to the growing availability of supportive treatments (eg, red blood cell transfusions, oral ICT), approved therapies (eg, luspatercept), and curative options (eg, bone marrow transplantation).

• #63 Changing patterns in the epidemiology of β‐thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7692954/

  Currently, most patients with thalassemia in the United Kingdom have a Pakistani or Indian background. […] The changing patterns of thalassemia prevalence in different parts of the world are mainly affected by changes in the number of births of new patients and are largely influenced by prevention programs, population migration, and improved survival of patients with thalassemia. […] As long as migration to these regions continues, for example, due to economic, social, or environmental reasons, the prevalence of thalassemia will continue to increase until the point is reached where large-scale preventive measures are implemented. […] Overall, thalassemia screening programs have reduced the number of affected births, particularly in countries where thalassemia is prevalent. […] An increasing number of informed couples, however, complete at-risk pregnancies due to the growing availability of supportive treatments (eg, red blood cell transfusions, oral ICT), approved therapies (eg, luspatercept), and curative options (eg, bone marrow transplantation).

• #64 Epidemiological Investigation of a Twenty-Year Major β-Thalassemia Surveillance in Kerman Iran – Archives of Hygiene Sciences

  https://jhygiene.muq.ac.ir/browse.php?a_id=466&slc_lang=en&sid=1&ftxt=1&html=1

  As a result, the rate of MBT incidences has decreased to 80% cases throughout the country so far, with 1,000 cases per year to less than 200 ones. […] However, in spite of the implementation of controlling and preventive programs, new cases of MBT have been reported in some regions of Iran, including Sistan and Baluchestan, Khuzestan, Hormozgan, and Kerman. […] Kerman province, located in the southeast of Iran, is one of the regions in which thalassemia is highly prevalent. […] The identification causes leading to MBT can help in planning and decision-making regarding the incidence reduction of this disease. […] This study was conducted from 1998-2018 to determine the incidence rate of MBT and identify the factors associated with its incidence in Kerman despite the implementation of controlling strategies.

• #65 Thalassemia: An Extensive Analysis of Epidemiology, Diagnosis, and Treatment Approaches

  https://www.ijsrtjournal.com/article/Thalassemia+An+Extensive+Analysis+of+Epidemiology+Diagnosis+and+Treatment+Approaches

  56,000 pregnancies worldwide result in a severe thalassemic condition, of which approximately 30,000 have BTM and 3500 pass away during pregnancy due to hydrops fetalis syndrome. […] Offering prospective genetic counseling and informing carriers of the dangers of intra marriage are crucial in nations with high thalassemia incidence. […] Attempts to use this strategy have so far been largely unsuccessful. […] As a result, programs for prenatal diagnosis have received a lot of attention. […] Due to the easy identification of thalassemia carrier states, affected fetuses can be diagnosed. […] Recent efforts have concentrated on early diagnosis by using embryonic fluid cells for fetal genetic testing or chorionic villus collection. […] The biggest difficulty for the coming years is the implementation of national prevention campaigns in areas like the Middle East, the Indian subcontinent, where thalassemias are prevalent.

• #66 Epidemiological features and clinical profile of patients with thalassemia in Kabul, Afganisthan – Journal of Hematology and Allied Sciences

  https://jhas-bsh.com/epidemiological-features-and-clinical-profile-of-patients-with-thalassemia/

  Thalassemia is the most common genetic disorder globally. In Afghanistan, the epidemiology and clinical characteristics of the disease are not studied officially. This study aims to explore the epidemiological pattern and clinical profile of thalassemia patients registered in the National Blood Bank (NBB), Kabul, Afghanistan. […] The number of patients with thalassemia is not clear in Afghanistan. Equipped centers and treatment facilities for patients are not adequate. […] Moreover, it is projected that the number of cases of thalassemia would be rising in Afghanistan, being part of South Asian countries. […] According to the World Health Organization (WHO) estimation, there are 14.4% alpha plus thalassemia carriers and 3% beta-thalassemia carriers among Afghanistan pregnant women. […] In 2006, the WHO designated thalassemia as a major public health concern; however, accurate information on the health burden of thalassemia with respect to patient numbers, genotypes, treatment requirements, disease-related complications, and mortality in many countries, including Afghanistan is unclear.

• #67 Epidemiological features and clinical profile of patients with thalassemia in Kabul, Afganisthan – Journal of Hematology and Allied Sciences

  https://jhas-bsh.com/epidemiological-features-and-clinical-profile-of-patients-with-thalassemia/

  Thalassemia is the most common genetic disorder globally. In Afghanistan, the epidemiology and clinical characteristics of the disease are not studied officially. This study aims to explore the epidemiological pattern and clinical profile of thalassemia patients registered in the National Blood Bank (NBB), Kabul, Afghanistan. […] The number of patients with thalassemia is not clear in Afghanistan. Equipped centers and treatment facilities for patients are not adequate. […] Moreover, it is projected that the number of cases of thalassemia would be rising in Afghanistan, being part of South Asian countries. […] According to the World Health Organization (WHO) estimation, there are 14.4% alpha plus thalassemia carriers and 3% beta-thalassemia carriers among Afghanistan pregnant women. […] In 2006, the WHO designated thalassemia as a major public health concern; however, accurate information on the health burden of thalassemia with respect to patient numbers, genotypes, treatment requirements, disease-related complications, and mortality in many countries, including Afghanistan is unclear.

• #68 Newborn Screening Practices and Alpha-Thalassemia Detection — United States, 2016 | MMWR

  https://www.cdc.gov/mmwr/volumes/69/wr/mm6936a7.htm

  These survey findings highlight the opportunity for newborn screening programs to revisit their policies as they reevaluate their practices in light of the recently released guideline from the Clinical and Laboratory Standards Institute (CLSI) on Newborn Screening for Hemoglobinopathies. […] Standardization of screening and reporting might lead to more timely diagnoses and health care services and improved outcomes for persons with a clinically significant alpha-thalassemia. […] Public health data for the United States are lacking, but in California, 1 in 10,000 newborns has an alpha-thalassemia syndrome. […] The potential impact of working to standardize newborn screening for alpha-thalassemia extends far beyond the identification during infancy of those with disease states, as well as those who are carriers.

• #69 Newborn Screening Practices and Alpha-Thalassemia Detection — United States, 2016 | MMWR

  https://www.cdc.gov/mmwr/volumes/69/wr/mm6936a7.htm

  Uniformity of screening, diagnosis, and treatment for alpha-thalassemia could play an important role in increasing timely and appropriate health care. […] An increase in the number of newborn screening programs reporting alpha-thalassemia results for multiple suspected forms of the condition might improve access to specialty care before the occurrence of severe complications, increase genetic counseling, and provide data needed to better understand the public health impact and clinical outcomes of alpha-thalassemia in the United States.

• #70 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  Because of the prevalence of the disease in countries with little knowledge of thalassemia, access to proper treatment and diagnosis can be difficult. While there are some diagnostic and treatment facilities in developing countries, in most cases these are not provided by government services and are available only to patients who can afford them. In general, poorer populations only have access to limited diagnostic facilities and blood transfusions. In some developing countries, there are virtually no facilities for diagnosis or management of thalassemia.

• #71 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  Because of the prevalence of the disease in countries with little knowledge of thalassemia, access to proper treatment and diagnosis can be difficult. While there are some diagnostic and treatment facilities in developing countries, in most cases these are not provided by government services and are available only to patients who can afford them. In general, poorer populations only have access to limited diagnostic facilities and blood transfusions. In some developing countries, there are virtually no facilities for diagnosis or management of thalassemia.

• #72 GLOBAL THALASSEMIA EPIDEMIOLOGY: A SYSTEMATIC LITERATURE REVIEW. EHA Library. X. Chamberlain C. Jun 9 2021; 325038

  https://library.ehaweb.org/eha/2021/eha2021-virtual-congress/325038/christina.x.chamberlain.global.thalassemia.epidemiology.a.systematic.html

  GLOBAL THALASSEMIA EPIDEMIOLOGY: A SYSTEMATIC LITERATURE REVIEW […] While thalassemias are common in areas historically endemic to malaria, the global epidemiology is changing due to factors such as population screening, improved survival rates, and migration. Comprehensive understanding of the global prevalence particularly with region- and subtype-specific estimates is limited. […] Based on available published data, the estimated prevalence of thalassemia (excluding minor/trait types) varied globally, with highest prevalence in Greece and the Middle East, and lowest prevalence in the Netherlands, Spain, France and Germany. There is limited prevalence data in non-Western countries, and in alpha-thalassemia in general. Additional studies, including global and country-specific thalassemia registries, are needed to better understand the current prevalence of this condition.

• #73 GLOBAL THALASSEMIA EPIDEMIOLOGY: A SYSTEMATIC LITERATURE REVIEW. EHA Library. X. Chamberlain C. Jun 9 2021; 325038

  https://library.ehaweb.org/eha/2021/eha2021-virtual-congress/325038/christina.x.chamberlain.global.thalassemia.epidemiology.a.systematic.html

  GLOBAL THALASSEMIA EPIDEMIOLOGY: A SYSTEMATIC LITERATURE REVIEW […] While thalassemias are common in areas historically endemic to malaria, the global epidemiology is changing due to factors such as population screening, improved survival rates, and migration. Comprehensive understanding of the global prevalence particularly with region- and subtype-specific estimates is limited. […] Based on available published data, the estimated prevalence of thalassemia (excluding minor/trait types) varied globally, with highest prevalence in Greece and the Middle East, and lowest prevalence in the Netherlands, Spain, France and Germany. There is limited prevalence data in non-Western countries, and in alpha-thalassemia in general. Additional studies, including global and country-specific thalassemia registries, are needed to better understand the current prevalence of this condition.

• #74 Changes in the epidemiology of thalassemia in North America: a new minority disease. | Department of Pediatrics

  https://pediatrics.ucsf.edu/node/406231

  Changing patterns of immigration to North America, along with improved treatment, have altered the clinical spectrum of thalassemia, one of the world’s most common genetic diseases. The new demography of the disease, with its widely variable phenotypes, has implications for its diagnosis, counseling, and management. Characterization of the new spectrum of this ancient disease, now predominated by minority groups, is essential for optimizing survival. […] The epidemiology of thalassemia in North America reflects a heterogeneous group of diseases with new ethnicities, genotypes, and phenotypes. In these communities, physicians will need to provide education, prenatal diagnosis, counseling, and management of this newly diverse group of patients.

• #75 An urgent need for improving thalassemia care due to the wide gap in current real-life practice and clinical practice guidelines | Scientific Reports

  https://www.nature.com/articles/s41598-021-92715-w

  However, surveillance rates of these complications were low in all clinics, with the highest rate in the Thal clinic. […] A standardized program for thalassemia patients based on these CPG for TDT and NTDT patients would provide an equal opportunity for all thalassemia patients to receive the same standard of care in the near future.

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