Materiały źródłowe

• #1 The Prevention of Thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3552345/

  The thalassemias are among the most common inherited diseases worldwide, affecting individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. As the diseases require long-term care, prevention of the homozygous state constitutes a major armament in the management. This article discusses the major prevention programs that are set up in many countries in Europe, Asia, and Australia, often drawing from the experience in Sardinia. These comprehensive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. […] Prevention programs in several countries involve public education, carrier screening, prenatal and preimplantation diagnosis, and counseling. […] At present, several countries have set up comprehensive national prevention programs, which include public awareness and education, carrier screening, and counseling, as well as information on prenatal diagnosis and preimplantation diagnosis.

• #2 Urgent call for compulsory premarital screening: a crucial step towards thalassemia prevention in Bangladesh | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03344-1

  Thalassemia poses a major public health concern in Bangladesh with a high prevalence of carriers. […] Premarital thalassemia screening is reportedly a successful strategy for countries such as Saudi Arabia and Iran and has also been proposed for Bangladesh. Mandatory screening coupled with genetic counseling is promising for reducing the prevalence of thalassemia by identifying carriers and providing relevant health education. […] In conclusion, based on evidence mandatory premarital screening with genetic counseling could be an effective measure to reduce the prevalence of thalassemia in Bangladesh. […] In Bangladesh, compulsory premarital screening, coupled with genetic counseling, has been proposed as an effective strategy to prevent thalassemia. […] In conclusion, compulsory premarital screening coupled with genetic counseling has the potential to significantly reduce the prevalence of thalassemia in Bangladesh.

• #3 The Prevention of Thalassemia

  https://perspectivesinmedicine.cshlp.org/content/3/2/a011775.short

  The thalassemias are among the most common inherited diseases worldwide, affecting individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. As the diseases require long-term care, prevention of the homozygous state constitutes a major armament in the management. This article discusses the major prevention programs that are set up in many countries in Europe, Asia, and Australia, often drawing from the experience in Sardinia. These comprehensive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. […] Special methods that are currently quite expensive and not widely applicable are preimplantation and preconception diagnosis. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal diagnosis that is noninvasive for the fetus.

• #4 The Prevention of Thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3552345/

  In most programs, carrier screening and counseling are being performed on a voluntary basis. […] In a number of Muslim countries including Lebanon, Iran, Saudi Arabia, Tunisia, United Arab Emirates, Bahrain, Qatar, and Gaza Strip, the national premarital programs are mandatory and aimed at limiting carrier marriage. […] In developing countries, it has been suggested that the ideal place where these preventive measures could be organized is through existing health care services. […] The successful programs in the Mediterranean area are all characterized by intensive education directed toward the health personnel and to the population at large. […] Formal education on thalassemias was also introduced in the educational curriculum at the end of secondary school. […] The introduction of teaching on thalassemia in secondary school has also played a critical role in enforcing the knowledge of thalassemia in the family members.

• #5 Thalassemia – Wikipedia

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

  The American College of Obstetricians and Gynecologists recommends all people thinking of becoming pregnant be tested to see if they have thalassemia. […] Genetic counseling and genetic testing are recommended for families who carry a thalassemia trait. […] A screening policy exists in Cyprus to reduce the rate of thalassemia, which, since the program’s implementation in the 1970s (also including prenatal screening and abortion), has reduced the number of children born with the disease from one of every 158 births to almost zero. […] Greece also has a screening program to identify people who are carriers. […] In Iran as a premarital screening, the man’s red cell indices are checked first. If he has microcytosis (mean cell hemoglobin 27 pg or mean red cell volume 80 fl), the woman is tested. When both are microcytic, their hemoglobin A2 concentrations are measured. If both have a concentration above 3.5% (diagnostic of thalassemia trait) they are referred to the local designated health post for genetic counseling. […] Large-scale awareness campaigns are being organized in India both by government and non-government organizations to promote voluntary premarital screening, with marriage between carriers strongly discouraged.

• #6 What Is the Purpose of Genetic Counseling for Thalassemia Prevention?

  https://www.icliniq.com/articles/blood-health/genetic-counseling-and-screening-programs-for-thalassemia-prevention

  Emotional Support: Coping with the risk of having a child with thalassemia can be emotionally challenging for individuals and couples. Genetic counselors provide emotional support, empathy, and a safe space for clients to express their concerns, fears, and uncertainties. […] Premarital screening is often believed to identify at-risk couples before marriage. It can help prevent the birth of affected children, assuming they decide to separate and find non-carrier partners. […] A more practical approach for at-risk married couples is limiting their family size. By having a maximum of two healthy children, there is a 56 percent chance of never having an affected child. […] Carrier Testing: Carrier testing is a key component of thalassemia screening programs. It involves analyzing an individual’s DNA or blood sample to identify whether they carry a thalassemia gene mutation.

• #7 Beta thalassemia – Wikipedia

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

  As an inherited condition, beta thalassemia cannot be prevented although genetic counselling of potential parents prior to conception can propose the use of donor sperm or eggs. […] The American College of Obstetricians and Gynecologists recommends all people thinking of becoming pregnant should be offered testing to see if they have thalassemia trait. Genetic counseling and genetic testing are recommended for families who carry a thalassemia trait. Understanding the genetic risk, ideally before a family is started, would hopefully allow families to understand more about the condition and make an informed decision that is best for their family. […] A number of countries have programs aimed at reducing the incidence of beta-thalassemia: Cyprus has one of the highest carrier rates in the world. A program of premarital screening and counselling has, since the program’s implementation in the 1970s, reduced the number of children born with thalassemia major from one of every 158 births to almost zero. Greece also has a screening program to identify people who are carriers.

• #8 Beta thalassemia – Wikipedia

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

  In Iran as a premarital screening, the man’s red cell indices are checked first. If he has microcytosis, the woman is tested. When both are microcytic, their hemoglobin A2 concentrations are measured. If both have a concentration above 3.5% they are referred to the local designated health post for genetic counseling. […] Large-scale awareness campaigns are being organized in India both by government and non-government organizations to promote voluntary premarital screening, with marriage between carriers strongly discouraged.

• #9 Next Generation Sequencing Unveils Path to Thalassemia Prevention | BGI Insight

  https://www.bgi.com/global/news/next-generation-sequencing-unveils-path-to-thalassemia-prevention-bgi-insight

  Dr. Peng Zhiyu, Vice President of BGI Genomics, recently emphasized that Thalassemia is highly preventable with carrier screening tests using Next-Generation Sequencing (NGS) technology. […] By integrating both hematological analysis and genetic analysis, NGS technology enables the detection of a wide range of pathogenic variants for carrier screening tests. […] This initiative not only improved public health but also demonstrated remarkable cost-effectiveness, with a health expenditure ratio of 1.127, translating to annual medical cost savings of USD$7 million. […] Expanded carrier screening in Qingyuan City, targeting over 35,000 pregnant women annually, has proven highly effective in identifying high-risk couples, further fortifying the preventive measures against hemoglobinopathies.

• #10 What Is the Purpose of Genetic Counseling for Thalassemia Prevention?

  https://www.icliniq.com/articles/blood-health/genetic-counseling-and-screening-programs-for-thalassemia-prevention

  Genetic counseling is a crucial part of preventing genetic diseases. It involves providing accurate information to individuals and families about the causes of genetic diseases and empowering them to take control of their health. […] The primary objectives of genetic counseling for thalassemia include: Risk Assessment: Genetic counselors evaluate the individual or couple’s risk of having a child with thalassemia based on factors such as family history, ethnicity, and carrier status. […] Education and Information: Genetic counselors provide comprehensive information about thalassemia, including its causes, symptoms, complications, and available treatment options. […] Family Planning: Genetic counselors assist individuals and couples in making informed decisions about family planning based on their risk assessment and personal preferences.

• #11 What Is the Purpose of Genetic Counseling for Thalassemia Prevention?

  https://www.icliniq.com/articles/blood-health/genetic-counseling-and-screening-programs-for-thalassemia-prevention

  Emotional Support: Coping with the risk of having a child with thalassemia can be emotionally challenging for individuals and couples. Genetic counselors provide emotional support, empathy, and a safe space for clients to express their concerns, fears, and uncertainties. […] Premarital screening is often believed to identify at-risk couples before marriage. It can help prevent the birth of affected children, assuming they decide to separate and find non-carrier partners. […] A more practical approach for at-risk married couples is limiting their family size. By having a maximum of two healthy children, there is a 56 percent chance of never having an affected child. […] Carrier Testing: Carrier testing is a key component of thalassemia screening programs. It involves analyzing an individual’s DNA or blood sample to identify whether they carry a thalassemia gene mutation.

• #12 Punjab Thalassaemia and Other Genetic Disorders Prevention and Research Institute – FATIMA JINNAH MEDICAL UNIVERSITY, LAHORE

  https://www.fjmu.edu.pk/ptgd/

  Prenatal diagnosis is a procedure to diagnose a genetic disorder such as Thalassemia early in the pregnancy. […] The PTGD provides the CVS test facility at all of its 09 Regional Centers. […] The PTGD has established a DNA Lab at Sir Ganga Ram Hospital, Lahore, which is the first public sector DNA lab providing free genetic testing and prenatal diagnosis services for Thalassaemia in the country. […] In Sept 2022, the Specialized Health Care Medical Education Department Punjab has approved a PC1 for the expansion of PTGD services to provide screening and prevention services for other genetic conditions as well. […] Since Beta Thalassaemia is the commonest inherited disorder in Pakistan and prevention of Thalassaemia is considered to be the only viable solution for a developing country like Pakistan, Dr. Yasmin Rashid initiated the Punjab Thalassaemia Prevention Programme (PTPP) as its first Project Director in in 2009- 2010.

• #13 What Is the Purpose of Genetic Counseling for Thalassemia Prevention?

  https://www.icliniq.com/articles/blood-health/genetic-counseling-and-screening-programs-for-thalassemia-prevention

  Newborn screening programs aim to detect thalassemia and other genetic conditions shortly after birth. […] Prenatal testing is recommended for individuals or couples with a known risk of thalassemia or a family history of the condition. […] Preimplantation genetic diagnosis (PGD) is an option to prevent the transmission of thalassemia. […] Genetic counseling and thalassemia prevention screening programs can significantly reduce the burden of this inherited blood disorder.

• #14 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. […] Preconception genetic counseling and testing should be discussed with patients who have risk factors (first-degree relative with thalassemia, history of stillbirth, high-risk ethnicity, and low mean corpuscular volume). […] Prenatal diagnosis is performed via chorionic villus sampling at 10 to 12 weeks gestation or amniocentesis after 15 weeks gestation. […] A complete blood count should be performed in all pregnant patients to screen for thalassemia. A low mean corpuscular volume warrants Hb electrophoresis. It is also reasonable to obtain Hb electrophoresis for those in high-risk ethnic groups (African, West Indian, Mediterranean, Middle Eastern, and Southeast Asian).

• #15 PREVENTION OF THALASSEMIA SYNDROMES 29 | Pediatric Research

  https://www.nature.com/articles/pr19972077

  Eradication of Thalassemia Syndromes is today feasible through the organization of prevention programs adjusted to the requirements of the respective population. These programs are based on the massive screening for the detection of couples at risk, the application of precise prenatal diagnosis in all risk pregnancies and termination of pregnancy in case of affected fetus. Prevention programs for eradication of thalassemia have already been applied successfully in Cyprus, Italy (particularly Sardinia) and Greece. […] To increase effectiveness, these programs have to be modified to meet the diagnosis of hematological phenotypes and molecular defects prevailing in the population. To this end, appropriate hematological and biochemical methods have to be selected for precise diagnosis of heterozygote couples at risk, supplemented by the most applicable DNA technique to identify the molecular defects. Selection of methodology for DNA analysis for precise prenatal diagnosis, is related to the type and prevalence of mutations in the population. In Greece with an extreme genetic heterogeneity of and thalassemias a combination of methods for DNA analysis is used. Prenatal diagnosis is basically carried during the first trimester of pregnancy on trophoblasts DNA and occasionally on DNA extracted from amniotic cells. Biosynthetic analysis of fetal blood in the second trimester has gradually been abandoned. […] At present prenatal diagnosis on fetal cells isolated from maternal circulation and preimplantation material is at an experimental stage.

• #16 Prenatal Diagnosis And Prevention Of Thalassemias – Klarity Health Library

  https://my.klarity.health/prenatal-diagnosis-and-prevention-of-thalassemias/

  Thalassemia can be avoided by prenatal diagnosis, genetic counselling, and reproductive technologies (e.g., preimplantation genetic diagnosis, PGD). […] Thalassemia screening and selecting proper reproductive options can help decrease the incidence of the disease. […] Genetic counseling is one of the key preventive measures for thalassemia. For couples who are at risk of having a child with thalassemia, counselling helps to understand their chances of transmission, available screening tests, and options for prenatal diagnosis. […] This, with in vitro fertilisation (IVF), enables the choice of embryos free from thalassemia. […] Couples who are both carriers for thalassemia and wish to prevent the risk of having an affected child may wish to use sperm or egg donors who are thalassemia non-carriers.

• #17 Thalassemia – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995

  Most of the time, you can’t prevent thalassemia. If you have the condition or if you have the thalassemia gene changes that cause it, it is very important to talk with a genetic counselor. The counselor can offer advice on the risks of your children being affected. […] Some people with thalassemia major think about getting pregnant with assisted reproductive technology. This includes procedures such as in vitro fertilization. IVF joins an egg and a sperm outside the body to make the earliest stage of an unborn baby, called an embryo. An exam called preimplantation genetic testing can then be used to check the embryo for gene changes related to thalassemia. If an embryo doesn’t have these changes, it can be placed in the uterus to start a pregnancy. This might help people who have thalassemia or a related gene have healthy babies. […] Another procedure that might lead to pregnancy is called intrauterine insemination. Sperm from a donor who doesn’t have thalassemia or the genes related the condition is placed in the uterus to join with an egg.

• #18 Thalassemia: Detection, Management, Prevention & Curative Treatment

  https://www.bangkokmedjournal.com/article/thalassemia-detection-management-prevention-amp-curative-treatment/179/article

  New technologies for in-vitro fertilization (IVF) together with pre-implantation genetic diagnosis (PGD) tests and subsequent embryo transfer to the maternal uterus have been increasingly recognized as the alternative method to achieve non-genetic-defective fetus. It may be a solution for parents to have a healthy, non-thalassemia-diseased child. In addition, if the IVF team can identify an HLA-matched, non-affected embryo, it will be beneficial for parents who have previous children with thalassemia major and needing an HLA-matched siblings cord blood transplantation to cure the disease.

• #19 Thalassemia prevention in Cyprus | SpringerLink

  https://link.springer.com/chapter/10.1007/978-94-015-9323-6_4

  As an increasing number of genetic disorders become preventable through the rapid increase in knowledge achieved in the course of the Human Genome Project, it may be useful to look at the example of prevention of thalassemia in Cyprus. Over the past 20 years, Cyprus has been able to develop one of the most effective prevention programmes for thalassemia or any other genetic disease, despite its relatively low level of scientific infrastructure and political misfortunes. The experiences gained in Cyprus may thus be of some relevance to the increasing number of preventable genetic disorders in general. […] These experiences may be especially relevant to many other developing countries, which are also gradually finding out that genetic disorders like thalassemia and sickle cell disease constitute a major health burden once the most serious aspects of starvation, infectious diseases, or war ravages as in the case of Cyprus, are contained.

• #20 World Thalassemia Day 2025: Uniting for Awareness, Action, and Hope

  https://www.artemishospitals.com/blog/world-thalassemia-day-awareness

  On an annual basis, more than 10,000 newborns in India are born with thalassemia major. […] Thalassemia can be controlled, and in certain situations, totally avoided, with the correct knowledge and preventative measures. […] Prevention is a social obligation as well as a medical tactic. Prevention can make all the difference in a nation like India, where thousands of babies are born with thalassemia each year. While options for treatment are present they are lifelong and generally expensive. Because of this, emphasizing prevention is not only practical but also kinder to humanity. We can protect future generations from the burden of this hereditary condition by raising awareness, promoting prompt screening, and assisting with well-informed decision-making.

• #21

  https://www.itmedicalteam.pl/articles/safe-marriages-for-thalassaemia-prevention-a-kapsurvey-in-sri-lanka-108487.html

  „Safe Marriages” for Thalassaemia Prevention: A KAP Survey in Sri Lanka […] Thalassemia is the commonest single gene disorder in Sri Lanka. […] Therefore prevention has become mandatory. National thalassemia prevention program adopted a policy of safe marriage that is defined as a marriage where at least one of the partners in a couple is not a carrier for thalassemia. […] More intensive monitoring and strengthening of education programs are recommended. Establishing and integrating the thalassemia prevention program in the excising health care delivery should be intensified while considering the need for implementing a compulsory screening and counseling program in the country. […] Preventing the birth of new cases is considered the best approach for controlling thalassemia for which screening for thalassemia carriers is mandatory. […] A policy of voluntary screening of school leavers has been adopted. […] The safe marriages concept formed the basis of the National Thalassemia Prevention Program of the Ministry of Health Sri Lanka because selective abortion is illegal as well as unacceptable on religious grounds. […] Premarital screening was presumed to meet with acceptance due to it being akin to comparison of horoscopes to assess compatibility, a cultural practice widely undertaken prior to marriage in Sri Lanka.

• #22

  https://austinpublishinggroup.com/pediatrics/fulltext/ajp-v2-id1023.php

  Thalassemia is the commonest recessively inherited chronic haemolytic anaemia. […] However one of the partners in a couple been a non-thalassemia carrier eliminates the risk of having affected babies. Such marriages are called safe marriage in Sri Lankan thalassemia prevention programme. […] Compulsory screening is mandatory for thalassemia prevention in Sri Lanka. […] Avoiding marriage between two carriers is the basis of thalassemia prevention within the concept of safe marriage. […] The concept of safe marriage recognizes a proposed couple as safe if one person in the couple is not a carrier. […] The National Thalassemia Committee recognizes four indicators for monitoring and guiding the thalassemia prevention program. […] The problem of health care delivery for those who are suffering from thalassemia is complex.

• #23 Redesigning New Policy Options for Thalassemia Prevention in Sri Lanka

  https://www.mdpi.com/2039-4365/12/4/18

  Redesigning New Policy Options for Thalassemia Prevention in Sri Lanka […] The current prevention program based on promoting “safe marriages”, which has been in existence for over 15 years, has failed to reduce thalassemia major births. […] Given the current legal restriction on termination of pregnancy for fetal indications, policy option 2, an island-wide screening with mass education, is the most cost-effective and will be expected to deliver a substantial reduction in new births. […] The biggest drawback of this was highlighted in a survey completed in 2015, in which the number of thalassemia major births did not reduce over a period of 10 years. […] The current screening program (status quo) has the lowest number of desired outcomes with the aversion of only 1 thalassemia major birth and the lowest benefit-cost ratio of 0.33/1.

• #24 The scenario of knowledge, attitude and practice of the Bangladeshi population towards thalassemia prevention: A nationwide study | PLOS Global Public Health

  https://journals.plos.org/globalpublichealth/article?id=10.1371/journal.pgph.0001177

  Thalassemia is one of the most common life-threatening yet preventable congenital hemoglobin disorders especially in South Asian regions like Bangladesh. […] The study shows that there is a need to disseminate the information on thalassemia since the knowledge gap is huge among people. These findings will strengthen the implementation of thalassemia major awareness through educational programs, health counseling, premarital screening and campaigning. […] Different strategies were applied in different countries to reduce thalassemia. Increased awareness of general population, premarital screening and genetic counselling (PSGC) and prenatal diagnosis (PND), has led to almost total elimination of thalassemia in Cyprus and, to a considerable extent, in Greece, Italy and Sardinia. […] Public education about thalassemia should be emphasized for successful thalassemia prevention. It has already been proven in several countries worldwide that implementation of mandatory national premarital screening programs could drastically reduce the incidence of infants born with thalassemia major. […] Premarital screening and genetic counseling facilities will contribute to reduce the number of babies born with thalassemia.

• #25 Effect of health education on severe thalassemia prevention and control in communities in Cambodia | Archives of Public Health | Full Text

  https://archpublichealth.biomedcentral.com/articles/10.1186/s13690-018-0259-3

  Severe thalassemia diseases are a major health problem in Southeast Asia. In Cambodia, there has never been a significant program for prevention or control of severe thalassemia. […] The intention to undergo screening was significantly higher in the intervention group than the control group. Knowledge and attitude towards prevention and control of severe thalassemia was significantly improved in the intervention group. Health education clearly heightens awareness and improves consideration of screening for prevention and control of severe thalassemia. […] As severe thalassemia affects both physical and mental health, it causes patients and their parents suffering; therefore, prevention and control of severe thalassemia are important. […] Prevention and control of severe thalassemia is more effective than treatment. Severe thalassemia diseases can be prevented and health education is the most powerful first step for increasing knowledge and awareness; the goal being an informed choice among carriers about getting a screening test.

• #26 Effect of health education on severe thalassemia prevention and control in communities in Cambodia | Archives of Public Health | Full Text

  https://archpublichealth.biomedcentral.com/articles/10.1186/s13690-018-0259-3

  Therefore, health education proved to be a powerful tool in this pilot prevention and control program for severe thalassemia in Cambodia. The current study demonstrated the effectiveness of health education vis-à-vis community-based prevention and control of severe thalassemia in Phnom Penh, Cambodia.

• #27 Thalassemia primary prevention – wikidoc

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

  Primary prevention for thalassemia focuses on education and genetic counseling. These measures can help to prevent the birth of patients with thalassemia. Primary prevention strategies are currently employed in various countries. […] There are a few key features of primary prevention for thalassemia. Primary prevention takes into account that thalassemia is a monogenic disorder, so environmental or behavioral strategies do not play a major role. Genetic counseling can be done for patients who are at risk, as this could help prevent the birth of babies who are homozygous for the thalassemia mutations. […] Education about thalassemia is a mainstay of prevention programs. […] Genetic counseling is a key component of prevention programs for thalassemia. By providing information about a patient’s risk for thalassemia, appropriate decisions can be made with regard to family planning. This is especially important who patient who are heterozygous for globin gene mutations, since mating with another heterozygote can result in the birth of a baby with a significant disease burden.

• #28

  https://www.chroniccare.org.lb/Prevention/ThalassemiaDetails

  After marriage: If both partners are Thalassemia carriers, there are several options but the decision differs due to cultural and religious beliefs. […] They can decide to do prenatal diagnosis (test the baby before birth) through genetic testing of fetus early in pregnancy. […] The Prevention Program at the Chronic Care Center: This National program was launched in 1994 in collaboration with the Ministry of Social Affairs. It targets the general population, high risk groups and families of patients. […] Awareness Campaigns at the national level to inform about the disease and to promote premarital test. […] The Chronic Care Center organizes campaigns for free screening (testing) to identify new carriers in the general population. […] The prevention program along with the implementation of the Premarital Law by the Ministry of Public Health succeeded in decreasing the number of newborns with Thalassemia Major by more than 75%.

• #29

  https://www.itmedicalteam.pl/articles/safe-marriages-for-thalassaemia-prevention-a-kapsurvey-in-sri-lanka-108487.html

  Although screening is offered free of charge by the state, only 17% of the population underwent carrier screening. […] It is recommend to incorporate thalassemia prevention in the school curriculum as one of the NO cost and most effective intervention. […] Making screening compulsory is a strategy that may need serious consideration if screening rates remain low even after these services are in place. […] According to a similar survey in Pakistan 95% of parents 90% of doctors have endorsed genetic counseling.

• #30

  https://journals.lww.com/jfmpc/fulltext/2025/03000/assessing_knowledge_on_thalassemia_for_prevention.44.aspx

  Thalassemia screening and prenatal screening ought to receive more attention. The disease is primarily spread by ignorance of the condition, lack of premarital screening procedures, and lack of knowledge. […] Controlling the affected thalassemia childbirth will involve a program of awareness raising about the disease, and preventing the birth of major thalassemia children through population screening, premarital screening, prenatal screening, and prenatal diagnosis before 11 weeks of gestation. […] Community-specific educational programs, along with policy measures, shall need to be integrated to halt the spread of the disease while improving the quality of life for the affected individuals. […] Implementing community-specific education initiatives, like culturally tailored outreach programs led by local healthcare workers who are trained in thalassemia awareness, can help mitigate the identified disparities. Mobile health clinics providing genetic counseling and screening services would also increase access in difficult-to-reach areas. Thalassemia education can also be integrated in school curriculums and maternal health programs.

• #31 World Thalassemia Day, 8 May 2025 | Theme, Importance, Prevention PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact

  https://www.pacehospital.com/world-thalassemia-day

  World Thalassemia Day is a global healthcare event commemorated every year on May 8th to raise awareness about the condition among the local public and policymakers, apart from supporting and strengthening the morale of the victims who have battled for years with this fatal disease. […] On this day, many local and international organisations, patient associations, public authorities, and healthcare professionals gather together to promote the importance of prenatal screening, counselling, prevention, management, or treatment of thalassemia in a patient-centred manner. […] Thalassemia affects 56,000 pregnancies worldwide, of which 30,000 have thalassemia major, and most of these patients were born in poor or underdeveloped nations. The treatment for major thalassemia can be exceedingly expensive and may involve stem cell transplants, continual blood transfusions, and chelation therapy. It is, therefore, essential to prevent congenital defects (thalassemia) before birth rather than keep trying to treat the condition after birth.

• #32 Malaria prophylaxis and sickle cell disease and thalassaemia – Primary Care Notebook

  https://primarycarenotebook.com/pages/infectious-disease/malaria-prophylaxis-and-sickle-cell-disease-and-thalassaemia

  sickle cell trait provides some protection against but still require antimalarial prophylaxis. […] in homozygous sickle cell disease, malaria causes further haemolysis against the background of that due to sickle-cell disease itself, hence rigorous antimalarial protection should be given to these patients […] thalassaemia may provide protection against severe malaria, but there is currently no evidence it prevents uncomplicated malaria

• #33 Chelation protocols for the elimination and prevention of iron overload in thalassaemia

  https://www.imrpress.com/journal/FBL/23/6/10.2741/4634

  Iron overload toxicity is the main cause of mortality and morbidity in thalassaemia patients. The complete elimination and prevention of iron overload is the main aim of chelation therapy, which can be achieved by chelation protocols that can effectively remove excess iron load and maintain body iron at normal levels. […] The design of tailored made personalised protocols using deferiprone and selected combinations with deferoxamine should be considered as optimum chelation therapies for the complete treatment and the prevention of iron overload in thalassaemia.

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

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

  Iron chelation therapy is recommended in transfusion-dependent thalassemia when ferritin levels exceed 1,000 ng per mL (1,000 mcg per L) and nontransfusion-dependent thalassemia when ferritin levels exceed 800 ng per mL (800 mcg per L). […] Hydroxyurea may be used as an adjunct therapy to reduce the need for transfusions in patients with thalassemia. […] Bisphosphonates and zinc supplementation can improve bone mineral density in patients with thalassemia and osteoporosis, and calcium and vitamin D are also recommended.

• #35 Thalassemia Intermedia Medication: Analgesics, Other, Antihistamines, 1st Generation, Chelators, Antibiotics, Other, Vitamins, Water-Soluble, Vitamins, Fat-Soluble, Corticosteroids, Vaccines, Inactivated, Bacterial, Erythropoiesis

  https://emedicine.medscape.com/article/959122-medication

  No specific medications are currently available for the treatment of thalassemia intermedia that have been proven in large-scale trials. […] Patients with iron overload should be treated with chelation therapy. The drugs of choice in current practice are the oral agents deferasirox and deferiprone. […] Penicillin or one of its derivatives should be prophylactically administered for patients who have undergone a splenectomy. […] A daily low dose of aspirin is advised as prophylactic treatment to prevent thrombotic events in patients with thalassemia intermedia who have undergone a splenectomy. […] Prophylaxis with penicillin V is provided for more than 3 years after splenectomy.

• #36 Prenatal Diagnosis And Prevention Of Thalassemias – Klarity Health Library

  https://my.klarity.health/prenatal-diagnosis-and-prevention-of-thalassemias/

  Newborn Screening for thalassemia plays an important role in the early diagnosis of affected infants. Early diagnosis facilitates treatment measures and interventions to reduce the risk of sequelae (anaemia, organ damage, or growth retardment). […] The prevention of thalassemia lies in the continued development of genetic diagnostic tools. More accurate and less invasive prenatal screens, such as improved NIPT, could help find them early and facilitate gaining traction, too, as a potential thalassemia treatment. […] Early carrier screening, prenatal diagnostic tests, and advanced reproductive technologies like PGD and IVF are essential for preventing the transmission of thalassemia to future generations.

• #37 Webinar highlight: High-throughput sequencing accelerates global thalassemia prevention | EurekAlert!

  https://www.eurekalert.org/news-releases/1071418

  The adoption of HTS technology has significantly improved detection rates compared to conventional methods, offering a valuable model for high-prevalence regions. As Prof. Sakorn Pornprasert noted, “NGS is a promising genetic testing method for identifying uncommon gene mutations, which is crucial for thalassemia screening and control.” […] Through HTS technology, BGI Genomics is working to establish an international academic consortium for thalassemia prevention. This consortium aims to develop and apply new technologies for thalassemia prevention, build a comprehensive database of pathogenic variants, and support the best clinical practices for thalassemia screening and diagnosis. […] Implementing genetic testing methods such as HTS, regions with high thalassemia prevalence can improve early detection rates, reduce misdiagnoses, and ultimately alleviate the societal and healthcare burdens of this preventable disease.

• #38 The Prevention of Thalassemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3552345/

  The primary effect of the programs for preventing -thalassemia in the Mediterranean populations has been the acquisition by the couples at risk of the appropriate knowledge to make informed decisions on the reproductive options available to them. This awareness of the genetic risk and methods of prevention led to a marked acceptance of fetal testing leading to a consistent decline in the birth rate of thalassemia major in these populations.

• #39

  https://www.banglajol.info/index.php/BJCH/article/view/31553

  Thalassaemias are a group of autosomal recessive disorder and the most common inherited disease worldwide with a wide geographical variation in incidence. […] Since Thalassaemia is a severe and incurable disease, it is only manageable when it is prevented. […] The WHO has advocated and promoted the programs for thalassaemia prevention from the early 1970s. […] So, we need to prevent thalassaemia before its too late by comprehensive national integrated prevention programs which include public awareness and education, carrier screening, genetic counseling, premarital screening and prenatal diagnosis. […] Thalassaemia prevention program has become a community concern as it affects marriage practices and reproduction. So, ethical issues need to be addressed for proper implementation of this by government policy, central control and co-ordination according to the local structures, social values, religious laws and cultural tradition of our country.

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