Niedokrwistość aplastyczna
Epidemiologia

Niedokrwistość aplastyczna (AA) to rzadkie, nienowotworowe schorzenie hematologiczne charakteryzujące się przewlekłą niewydolnością hematopoetyczną i pancytopenią, wynikającą z redukcji prekursorów krwiotwórczych w szpiku kostnym. Globalna zapadalność waha się od 0,7 do 7,4 przypadków na milion mieszkańców rocznie, z wyraźnym zróżnicowaniem geograficznym – niższą w Europie i Ameryce Północnej (około 2,0-2,83/milion/rok) oraz wyższą w Azji (3,9-8,3/milion/rok). Choroba wykazuje dwumodalny rozkład wiekowy z szczytami zachorowań w grupie 15-25 lat oraz powyżej 60. roku życia. Stosunek płci męskiej do żeńskiej jest zbliżony do 1:1. Czynniki ryzyka obejmują ekspozycję na benzen, toksyczne chemikalia, leki, infekcje oraz czynniki społeczno-demograficzne, takie jak niski status społeczno-ekonomiczny i życie na obszarach wiejskich. Etiologia jest często idiopatyczna (75% przypadków), a w niektórych populacjach południowoazjatyckich wskazuje się także na czynniki genetyczne.

Epidemiologia niedokrwistości aplastycznej

Niedokrwistość aplastyczna to rzadkie, nienowotworowe schorzenie hematologiczne charakteryzujące się przewlekłą niewydolnością hematopoetyczną, prowadzącą do zmniejszenia lub braku prekursorów krwiotwórczych w szpiku kostnym i towarzyszącej pancytopenii 12. Ze względu na swoją rzadkość, dokładne dane epidemiologiczne są trudne do uzyskania, jednak dostępne badania pozwalają na określenie podstawowych cech epidemiologicznych tego schorzenia.

Częstość występowania na świecie

Częstość występowania niedokrwistości aplastycznej wykazuje znaczne zróżnicowanie geograficzne. Globalna zapadalność waha się od 0,7 do 7,4 przypadków na milion mieszkańców rocznie 34. W krajach europejskich i Ameryce Północnej częstość występowania tej choroby jest niższa w porównaniu do krajów azjatyckich 5.

W badaniach europejskich średnia zapadalność wynosi około 2,0-2,34 przypadków na milion mieszkańców rocznie 65. Obserwacyjne badanie przeprowadzone w Barcelonie wykazało zapadalność na poziomie 2,34 przypadków na milion mieszkańców rocznie 5, co jest zgodne z innymi badaniami europejskimi. Podobne wyniki uzyskano w Hiszpanii, gdzie w badaniu przeprowadzonym w siedmiu szpitalach wykazano częstość występowania na poziomie 2,83 przypadków na milion mieszkańców rocznie 78.

W krajach azjatyckich zapadalność jest około 2-3 razy wyższa niż w krajach zachodnich 96. W Tajlandii zapadalność wynosi około 4,6 przypadków na milion mieszkańców rocznie 10, w Bangkoku 3,9 przypadków na milion rocznie, a w danych z japońskiego rejestru 8,3 przypadków na milion rocznie 11. W Chinach w dużym ogólnokrajowym badaniu przeprowadzonym w latach 1986-1988 odnotowano zapadalność na poziomie 7,4 przypadków na milion mieszkańców 12.

W Stanach Zjednoczonych roczna liczba nowych zachorowań szacowana jest na 300-900 przypadków 1314, co przekłada się na zapadalność od 0,6 do 6,1 przypadków na milion mieszkańców 19.

Rozkład wieku i płci

Niedokrwistość aplastyczna występuje we wszystkich grupach wiekowych, jednak charakterystyczny jest jej dwumodalny rozkład wiekowy 115. Pierwszy szczyt zachorowalności obserwuje się u dzieci i młodych dorosłych, głównie w przedziale wiekowym 15-25 lat, a drugi szczyt występuje u osób powyżej 60. roku życia 916.

W badaniu przeprowadzonym w Pakistanie mediana wieku pacjentów wynosiła 20 lat 17, natomiast w badaniu szwedzkim wykazano, że 5-letnie przeżycie całkowite wynosiło 90% u pacjentów w wieku do 39 lat, ale zaledwie 38,1% u pacjentów w wieku 60 lat i starszych 18. Szczególnie wysoka zapadalność w Tajlandii została zaobserwowana wśród osób w wieku 80-89 lat, osiągając wartość 14,4 przypadków na milion 1010.

Stosunek płci męskiej do żeńskiej jest w większości badań zbliżony do 1:1 16, co jest nietypowe dla chorób o podłożu immunologicznym. W niektórych badaniach z Azji odnotowano nieznaczną przewagę mężczyzn 9, natomiast w badaniu skandynawskim zaobserwowano lekką przewagę kobiet (52% w porównaniu do 48% mężczyzn) 15.

Zróżnicowanie geograficzne

Jak już wspomniano, istnieje wyraźna różnica w częstości występowania niedokrwistości aplastycznej między krajami zachodnimi a azjatyckimi. Wyższa zapadalność w Azji może być związana z czynnikami środowiskowymi, takimi jak zwiększona ekspozycja na toksyczne chemikalia, a nie z czynnikami genetycznymi, ponieważ ten wzrost nie jest obserwowany u osób pochodzenia azjatyckiego mieszkających w Stanach Zjednoczonych 9.

W Pakistanie zapadalność wynosi około 3,5 przypadków na milion mieszkańców 19, w Albanii odnotowano zapadalność na poziomie 1,35 przypadków na milion mieszkańców, co jest niższe w porównaniu z innymi badaniami europejskimi 20. W Wietnamie, szczególnie w regionie Ho Chi Minh City, zapadalność wśród mężczyzn wynosi około 5 przypadków na milion, co jest podobne do danych z Tajlandii, ale około dwukrotnie wyższe niż w Europie 21.

Śmiertelność i przeżywalność

Niedokrwistość aplastyczna pozostaje poważną chorobą hematologiczną z istotną śmiertelnością. W badaniu barcelońskim śmiertelność w ciągu 2 lat od rozpoznania wynosiła prawie jedną śmierć na milion mieszkańców rocznie 5. Śmiertelność w ciągu 2 lat po diagnozie (zarówno dla ciężkiej, jak i umiarkowanej pancytopenii) przekraczała 40% i była wyższa u pacjentów w wieku 45 lat i starszych 6.

Czynnikami związanymi ze śmiertelnością w ciągu 2 lat od rozpoznania były wiek powyżej 45 lat w momencie diagnozy oraz bardzo ciężka początkowa niedokrwistość aplastyczna 5. W populacyjnym badaniu australijskim obejmującym 3273 dorosłych skumulowana częstość późnej śmiertelności wynosiła 22,2% po 10 latach 4.

Wskaźnik śmiertelności w ciężkiej niedokrwistości aplastycznej jest wysoki, chociaż leczenie, czy to poprzez allogeniczny przeszczep komórek macierzystych, czy immunosupresję, znacznie poprawiło rokowanie w ciągu ostatnich 25 lat, a ponad 75% pacjentów może obecnie oczekiwać długoterminowego przeżycia przy zastosowaniu jednej z tych terapii 5.

Czynniki ryzyka

Do potencjalnych czynników etiologicznych niedokrwistości aplastycznej zalicza się ekspozycję na benzen, która jest najstarszym i najbardziej powszechnie akceptowanym związkiem przyczynowym w rozwoju niewydolności szpiku 6. Osoby z wyższym ryzykiem rozwoju niedokrwistości aplastycznej to te, które są narażone na wysokie dawki promieniowania lub toksyczne chemikalia, przyjmują określone leki na receptę, mają wcześniej istniejące choroby autoimmunologiczne lub choroby krwi, lub są w ciąży 2.

W badaniu przeprowadzonym w Pakistanie historia ekspozycji na substancje chemiczne obejmowała nawozy (8,7%), pestycydy (4,2%) i chemikalia przemysłowe (2,8%) 17. Większość pacjentów pochodziła z niskiej (57,5%) lub średniej klasy społeczno-ekonomicznej (41%), a pokrewieństwo wśród pacjentów (61%) było nieco wyższe niż statystyki krajowe 17.

Młodszy wiek, przewaga mężczyzn i wyższe pokrewieństwo wskazują na czynniki genetyczne w etiologii niedokrwistości aplastycznej wśród populacji południowoazjatyckiej 17. Czynniki społeczno-demograficzne, takie jak życie w środowisku wiejskim, niski status społeczno-ekonomiczny, analfabetyzm i wiek poniżej 15 lat, są uznawane za czynniki ryzyka niedokrwistości aplastycznej 19.

Wzorce etiologiczne

Nabyta niedokrwistość aplastyczna jest rzadkim zaburzeniem immunologicznym atakującym krwiotwórcze komórki macierzyste 11. Definicja niedokrwistości aplastycznej jest prosta, ale różnicowanie jej od innych zaburzeń niewydolności szpiku kostnego jest wyzwaniem. Szczególnie ważne jest różnicowanie od hipokomórkowego zespołu mielodysplastycznego (MDS) u dorosłych i dziedzicznego zespołu niewydolności szpiku kostnego (IBMFS) u dzieci, co ma kluczowe znaczenie dla określenia strategii leczenia 11.

Choroba jest zwykle nabyta w trakcie życia, a nie dziedziczona. Nabyte przypadki są często powiązane z ekspozycją środowiskową, taką jak chemikalia, leki i czynniki zakaźne, które uszkadzają szpik kostny i upośledzają jego zdolność do generowania nowych komórek krwi. Jednak w wielu przypadkach podstawowa przyczyna choroby nie jest znana. Jest to określane jako idiopatyczna niedokrwistość aplastyczna i stanowi 75% przypadków 2.

W kompleksowej analizie wieloczynnikowej przeprowadzonej w Chinach, zidentyfikowano 8 czynników ryzyka, które mogą wspólnie powodować niedokrwistość aplastyczną: obecność fabryki chemicznej w odległości 3 km od miejsca zamieszkania, mieszkanie w nowo urządzonym domu/mieszkaniu, dieta wegetariańska, preferencja cukru, preferencja tłustego jedzenia, picie wody z jeziora lub stawu, nawyk późnego kładzenia się spać oraz historia infekcji 1212. Analiza liczby czynników ryzyka wykazała, że każdy dodatkowy czynnik ryzyka może zwiększyć ryzyko niedokrwistości aplastycznej o 6,156 razy 12.

Nadzór i monitorowanie

Dane dotyczące śmiertelności związanej z niedokrwistością aplastyczną w skali ogólnokrajowej są rzadko spotykane w światowej literaturze medycznej 22. W Brazylii w latach 2000-2018 odnotowano 35 523 zgony związane z niedokrwistością aplastyczną, z czego 13 629 (38,4%) jako przyczynę zasadniczą, a 21 894 (61,6%) jako przyczynę towarzyszącą 22. Średnie standaryzowane współczynniki śmiertelności wynosiły odpowiednio 4,02, 6,40 i 10,42 zgonów na milion mieszkańców dla przyczyn zasadniczych, towarzyszących i wszystkich zgłoszonych 22.

Krajowe statystyki śmiertelności w Brazylii pochodzą z aktów zgonu wystawianych przez lekarzy lub przygotowywanych na podstawie zeznań świadków i są dokumentowane w Urzędach Stanu Cywilnego. Dane demograficzne i medyczne z aktów zgonu są kodowane i przetwarzane przez służby statystyki życiowej lub nadzoru epidemiologicznego w stanach federalnych i są przesyłane do Ministerstwa Zdrowia w celu konsolidacji jako dane z całego kraju 22.

Badanie to potwierdziło, że choroby zakaźne są główną przyczyną towarzyszącą zgonów, stanowiąc 48,9% i 42,6% zgonów odpowiednio wśród zgonów z powodu niedokrwistości aplastycznej jako przyczyny zasadniczej i towarzyszącej, przy czym przeważają posocznice, które stanowią ponad 47% wszystkich zgonów 22.

Szczególne populacje

W badaniu przeprowadzonym w Korei Południowej roczna zapadalność u dzieci koreańskich z niedokrwistością aplastyczną wynosiła 5,16 przypadków na milion rocznie 23. Zapadalność na ciężką (SAA) i bardzo ciężką niedokrwistość aplastyczną (VSAA) (3,8 na milion) była wyższa niż na niedokrwistość aplastyczną o niewielkim nasileniu (NSAA, 0,8 na milion) 10.

U pacjentów leczonych felbamatem, szacowana częstość występowania niedokrwistości aplastycznej wynosiła od 27 do 209 przypadków na milion rocznie, z najbardziej prawdopodobną wartością 127 na milion 24.

Niedokrwistość aplastyczna jest związana ze stanem immunosupresji, wynikającym albo z samej choroby, albo z leków immunosupresyjnych podawanych w jej leczeniu 25. Stan immunosupresji w niedokrwistości aplastycznej prowadzi nie tylko do zwiększonego ryzyka zakażenia wysoce zakaźnym wirusem SARS-CoV-2, ale także zwiększa szanse rozwoju ciężkiej choroby. Jednak z drugiej strony, immunosupresja może zapobiegać nadmiernej odpowiedzi zapalnej w przebiegu COVID-19 25.

Wtórne efekty i powikłania

Pacjenci skutecznie leczeni z powodu niedokrwistości aplastycznej mają wyższe ryzyko rozwoju innych chorób w późniejszym życiu, w tym nowotworów 26. W badaniu przeprowadzonym przez Vo i współpracowników, 26-letnia skumulowana częstość występowania nowotworów wynosiła 11%, co stanowi dwukrotny wzrost w stosunku do ogólnej populacji USA 27.

Ryzyko guzów litych po przeszczepie komórek macierzystych w niedokrwistości aplastycznej było znacznie wyższe niż u pacjentów nieprzeszczepionych 27. Badanie to dostarcza najbardziej użytecznych informacji dotyczących długoterminowej obserwacji pacjentów po przeszczepieniu z powodu niedokrwistości aplastycznej i podkreśla krytyczną potrzebę całożyciowego nadzoru nad późnymi efektami 27.

U pacjentów z niedokrwistością aplastyczną często występują powikłania infekcyjne, co jest związane z niewydolnością szpiku kostnego 28. Cytokiny są nieprawidłowo wyrażane w niedokrwistości aplastycznej w zakażeniu płuc, a nieprawidłowy wzrost IL-6 sugeruje, że pacjent ma bakteryjne zakażenie płuc. Jednak gdy IL-8 i IL-6 są podwyższone jednocześnie, może to wskazywać, że pacjent ma zakażenie bakteryjne i grzybicze 28.

Kierunki przyszłych badań

Przyszłe badania epidemiologiczne niedokrwistości aplastycznej powinny wykraczać poza kwestionariusze przeprowadzane przez ankieterów i przejść do epidemiologii molekularnej 6. Istnieje rosnące uznanie, że zaburzenia takie jak dziedziczne zespoły niewydolności szpiku kostnego mogą występować bez cech fizycznych i/lub historii rodzinnej, co prowadzi do opóźnionego rozpoznania lub błędnej diagnozy, szczególnie u dorosłych 29.

Badania wykazały, że osoby, które przechodzą przeszczep komórek krwiotwórczych w leczeniu ciężkiej niedokrwistości aplastycznej (SAA), mogą odnieść korzyści z badań genetycznych przed rozpoczęciem leczenia, aby ustalić, czy mają nierozpoznany dziedziczny zespół niewydolności szpiku kostnego (IBMFS) i dlatego potrzebują specyficznych dla choroby schematów przeszczepu i planów obserwacji 29.

W analizie progresji niedokrwistości aplastycznej do zespołu mielodysplastycznego ujawniono, że w momencie ewolucji 34 z 38 pacjentów miało co najmniej jedną z 148 wykrytych mutacji somatycznych, ze średnią czterech trafień somatycznych odkrytych na pacjenta 30. Ponadto, 10% pacjentów w kohorcie z zespołem niewydolności szpiku kostnego miało patogenne i prawdopodobnie patogenne warianty germlinalne (Tier-1), a 44% miało podejrzane warianty germlinalne o nieudowodnionym znaczeniu klinicznym (Tier-2) 30.

Na rynku leków stosowanych w niedokrwistości aplastycznej oczekuje się, że terapie takie jak PF-06462700, REGN7257, BL-8040 i inne, wzmocnią rynek niedokrwistości aplastycznej w nadchodzących latach 31.

Podsumowanie danych epidemiologicznych

Niedokrwistość aplastyczna jest rzadkim, ale poważnym zaburzeniem hematologicznym, którego częstość występowania różni się znacząco na całym świecie. W krajach europejskich i Ameryce Północnej zapadalność wynosi około 1,5-2,3 przypadków na milion mieszkańców rocznie, podczas gdy w krajach azjatyckich jest 2-3 razy wyższa, wynosząc 3,0-7,5 przypadków na milion 1032.

Choroba występuje we wszystkich grupach wiekowych, z charakterystycznym dwumodalnym rozkładem, z pierwszym szczytem zachorowalności w wieku 15-25 lat i drugim szczytem po 60. roku życia 33. Stosunek płci męskiej do żeńskiej jest zbliżony do 1:1 w większości badań 6.

Mimo postępów w leczeniu, niedokrwistość aplastyczna pozostaje chorobą o znacznej śmiertelności, szczególnie u osób starszych. Czynniki ryzyka obejmują ekspozycję na substancje chemiczne, niektóre leki, infekcje, a także czynniki społeczno-demograficzne, takie jak życie w środowisku wiejskim i niski status społeczno-ekonomiczny 19.

Przyszłe badania powinny skupić się na epidemiologii molekularnej i badaniach genetycznych, które mogą pomóc w lepszym zrozumieniu patogenezy choroby i opracowaniu bardziej skutecznych strategii leczenia 629.

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  1. 14.04.2026
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Materiały źródłowe

  • #1 Aplastic Anemia – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK534212/
    Aplastic anemia refers to the syndrome of chronic primary hematopoietic failure from injury leading to diminished or absent hematopoietic precursors in the bone marrow and attendant pancytopenia. […] Accurate information regarding the epidemiology regarding the incidence of aplastic anemia is generally not available. Studies suggest the incidence is 0.6 to 6.1 cases per million population; this rate is largely based on data from retrospective reviews of death registries. […] The male-to-female ratio is approximately 1:1. Although aplastic anemia occurs in all age groups, a small peak in the incidence is observed in childhood. A second peak is found in the 20 to 25-year-old age group.
  • #2 Aplastic anemia – Wikipedia
    https://en.wikipedia.org/wiki/Aplastic_anemia
    Aplastic anemia is a rare, noncancerous disorder in which the blood marrow is unable to adequately produce blood cells required for survival. It is estimated that the incidence of aplastic anemia is 0.7-4.1 cases per million people worldwide, with the prevalence between men and women being approximately equal. The incidence rate of aplastic anemia in Asia is 2-3 times higher than it is in the West; the incidence in the United States is 300-900 cases per year. The disease most commonly affects adults aged 15-25 and over the age of 60, but it can be observed in all age groups. […] The disease is usually acquired during life and not inherited. Acquired cases are often linked to environmental exposures such as chemicals, drugs, and infectious agents that damage the bone marrow and compromise its ability to generate new blood cells. However, in many instances the underlying cause for the disease is not found. This is referred to as idiopathic aplastic anemia and accounts for 75% of cases.
  • #2 Aplastic anemia – Wikipedia
    https://en.wikipedia.org/wiki/Aplastic_anemia
    Those with a higher risk for aplastic anemia include individuals who are exposed to high-dose radiation or toxic chemicals, take certain prescription drugs, have pre-existing autoimmune disorders or blood diseases, or are pregnant. No screening test currently exists for early detection of aplastic anemia.
  • #3 Aplastic Anemia – Market Insight, Epidemiology and Market Forecast – 2034
    https://www.researchandmarkets.com/reports/5524158/aplastic-anemia-market-insight-epidemiology?srsltid=AfmBOor47MWzVwbALaq_wJSWj4MUlB_FAMqGNYweqRVBVB43xo6ci4kn
    Aplastic anemia is a rare and severe nonmalignant disease characterized by autoimmune destruction of early hematopoietic cells. Its global incidence rate ranges from 0.7-7.4 cases per million inhabitants per year, with higher rates in Asia compared to Europe and the United States. […] The total incident cases of aplastic anemia in the 7MM comprised approximately ~2,500 cases in 2023 and are projected to increase during the forecast period. […] Among the 7MM, Japan accounted for the highest number of incident cases of aplastic anemia, i.e., ~800 cases in 2023. […] According to estimates, aplastic anemia is more common in the older population; the highest incident cases were in age group of =60 years, accounting for ~60% cases, and ~40% were 60 in 2020 in the 7MM. […] In 2023, among EU4 and the UK, Germany accounted for the largest number of aplastic anemia cases, whereas Spain occupied the bottom of the ladder.
  • #4 Aplastic anemia epidemiology and demographics – wikidoc
    https://www.wikidoc.org/index.php/Aplastic_anemia_epidemiology_and_demographics
    Aplastic anemia is a rare condition with incidence of two cases per million individuals per year in Western countries with rates two to three times as high in Asia. […] Incidence is two cases per million individuals per year in Western countries. […] Common in adolescents, young adults, and the elderly. […] Men and women are equally likely to develop aplastic anemia. […] In a population-based Australian cohort of 3273 adult the cumulative incidence of late mortality was 22.2% at 10 years. […] Two to three times more common in Asians. […] Incidence of aplastic anemia is 3 times higher in Asia.
  • #5
    https://haematologica.org/article/view/4811
    Aplastic anemia is a rare and severe disease. Its incidence varies considerably worldwide. We aimed at describing the epidemiology of this disease, including the incidence, mortality and survival trends, in a well-defined population. […] The overall incidence was 2.34 per million inhabitants per year and the incidence increased with age. […] The incidence of aplastic anemia shows geographical variability. It seems to be lower in Europe, North America and Brazil, and higher in Asia. […] The case fatality rate of severe aplastic anemia is high although treatment, whether by allogeneic stem-cell transplantation or immunosuppression, has dramatically improved the prognosis over the last 25 years, and more than 75% of patients can now be expected to have long-term survival with either therapy.
  • #5
    https://haematologica.org/article/view/4811
    The overall incidence of aplastic anemia in the study area was 2.34 cases per million population per year, and the mortality at 2 years was nearly one death per million per year. […] The prognosis has improved significantly, the mortality rate among patients with this disease is high. The incidence and survival rates were similar to those in other European countries. Factors associated with death at 2 years after diagnosis were age over 45 at diagnosis, and very severe initial aplastic anemia.
  • #6
    https://haematologica.org/article/view/4806
    A plastic anemia has been studied in many epidemiologic investigations, of which the current report from Barcelona is the most recent. […] A summary review of the epidemiology of aplastic anemia is informed by our present understanding of its pathophysiology, based on several decades of laboratory and clinical observations. […] The incidence reported by Montan et al. of 2.34/million is similar to the rate of 2.0 for the International Agranulocytosis and Aplastic Anemia Study in Europe and Israel, of which the Barcelona study is a partial continuation, and of smaller national studies in France, the United Kingdom, Scandinavia, and Brazil. […] The incidence of aplastic anemia is higher in Asia than in the West. […] In almost all modern studies of aplastic anemia, the sex ratio has been close to 1:1, which is unusual for immune-mediated diseases.
  • #6
    https://haematologica.org/article/view/4806
    Among the potentially etiologic associations between environmental exposures and marrow failure, benzene is the oldest and most widely accepted. […] A major contribution of the study of Montan et al. is the detailed mortality data; this type of clinical information is usually not provided in epidemiologic studies. […] Aplastic anemia remains a serious hematologic disease: mortality at two years after diagnosis (both severe and moderate pancytopenia) was over 40%, and higher in patients 45 years and older. […] Future investigations of large populations must proceed beyond interviewer-administered questionnaires to molecular epidemiology.
  • #7 APLASTIC ANEMIA | Incidence and Clinical Management in Spain Consistent with Other Studies – TIF
    https://thalassaemia.org.cy/news/aplastic-anemia-incidence-and-clinical-management-in-spain-consistent-with-other-studies/
    An observational study at 7 hospitals in Spain demonstrated the incidence of aplastic anemia and clinical management for patients in Spain was consistent with other international and national studies. […] We aimed to obtain information regarding the incidence and epidemiology of aplastic anemia in a well-defined population in Spain, covering distinct geographic regions. […] Out of the population, 106 patients were confirmed with aplastic anemia, which corresponds to an incidence rate of approximately 2.83 cases per million people per year. […] The study identified a rate of aplastic anemia at 2.83 occurrences for every million people each year, which is consistent with the findings of the International Agranulocytosis and Aplastic Anemia Study. This rate aligns with the findings of other studies within European and Latin American populations, as reported by the researchers.
  • #8 Incidence and Clinical Management of Aplastic Anemia Consistent in Spain  – Hematology Advisor
    https://www.hematologyadvisor.com/news/incidence-clinical-management-aplastic-anemia-consistent-spain-treatment/
    An ambispective observational study at 7 hospitals in Spain demonstrated the incidence of aplastic anemia and clinical management for patients in Spain was consistent with other international and national studies. […] A study published in the Annals of Hematology found that the incidence of aplastic anemia in Spain is consistent with that reported previously in other international and national studies. […] We found an incidence of aplastic anemia of 2.83 cases per million inhabitants per year, in line with that reported in the International Agranulocytosis and Aplastic Anemia Study, and consistent with that indicated in other population-based studies in European and in Latin American countries. […] We found an incidence of aplastic anemia of 2.83 cases per million inhabitants per year, in line with that reported in the International Agranulocytosis and Aplastic Anemia Study, and consistent with that indicated in other population-based studies in European and in Latin American countries, the authors wrote.
  • #9 Aplastic Anemia: Practice Essentials, Background, Etiology
    https://emedicine.medscape.com/article/198759-overview
    No accurate prospective data are available regarding the incidence of aplastic anemia in the United States. Findings from several retrospective studies usually overlap those from Europe and suggest that the incidence is 0.6-6.1 cases per million population; this rate is largely based on data from reviews of death registries. […] The annual incidence of aplastic anemia in Europe, as detailed in large, formal epidemiologic studies, is 2 cases per million population. Aplastic anemia is thought to be more common in Asia than in the West. The incidence was accurately determined to be 4 cases per million population in Bangkok, but based on prospective studies, it may actually be closer to 6 cases per million population in the rural areas of Thailand. This increased incidence may be related to environmental factors, such as increased exposure to toxic chemicals, rather than to genetic factors, because this increase is not observed in people of Asian ancestry who are living in the United States.
  • #9 Aplastic Anemia: Practice Essentials, Background, Etiology
    https://emedicine.medscape.com/article/198759-overview
    Although no racial predisposition for aplastic anemia is reported in the United States, the prevalence is increased in the Far East. The male-to-female ratio for acquired aplastic anemia is approximately 1:1, although a male preponderance has been reported in studies from Asia. Although aplastic anemia occurs in all age groups, a small peak in the incidence is observed in childhood because of the inclusion of inherited marrow-failure syndromes. A second peak is observed in people aged 20-25 years.
  • #10
    https://link.springer.com/article/10.1007/s00277-021-04566-0
    The incidence and outcomes of aplastic anemia (AA) in Asia remain limited. This study aimed to explore the incidence and outcomes of patients with adult AA across the country of Thailand. There were 348 newly diagnosed adult AA patients during the enrollment period, giving an annual incidence of 4.6 per million. The incidence of severe (SAA) and very severe aplastic anemia (VSAA) (3.8 per million) was higher than non-severe AA (NSAA, 0.8 per million). The peak incidence was observed in the patients aged from 80 to 89 years old (14.4 per million). The incidence of adult AA in Thailand is higher than those in Western countries, and the peak incidence is in the elderly. […] The incidence of aplastic anemia (AA) varied worldwide. The estimated annual incidence in Western countries was 1.5-2.3 per million, while it was 2-3 times higher in Asia (3.0-7.5 per million).
  • #10
    https://link.springer.com/article/10.1007/s00277-021-04566-0
    In this nationwide prospective study of adult AA patients diagnosed from 2014 to 2016, the annual incidence of adult AA in Thailand was 4.6 per million, which considerably is more or less similar to 3.0-5.0 per million in the previous population-based study in Thailand conducted 20 years ago. […] The AA annual incidence of 4.6 per million being reported here is approximately twice higher than that from Western countries (ranged 1.5-2.3) but is similar to the reports from Asia: 4.8 in Malaysia, 5.7 in Taiwan, and 7.5 in China. […] The current study demonstrated a remarkable age-related distribution with steeply increased incidence after the age of 50 with a peak incidence at the age over 80 years old (14.3 per million).
  • #11
    https://link.springer.com/article/10.1007/s12185-024-03715-1
    Acquired aplastic anemia is a rare immune disorder targeting hematopoietic stem cells. The incidence of aplastic anemia was reported as 2.34 per million inhabitants per year in a surveillance study in Barcelona. The rate was reported to be slightly higher in Asia, but still low: 3.9 per million-year in a Bangkok survey, and 8.3 per million-year in Japanese registry data. Hematologists generally encounter considerably fewer patients with aplastic anemia than patients with acute leukemia. […] The definition of aplastic anemia is simple, but differential diagnosis from other bone marrow failure disorders is challenging. Differentiation from hypocellular myelodysplastic syndrome (MDS) in adults and inherited bone marrow failure syndrome (IBMFS) in children is particularly important in determining the treatment strategy. […] Nao Yoshida reviewed comprehensive workup including next-generation sequencing for differential diagnosis between acquired aplastic anemia and IBMFS.
  • #12
    https://journals.lww.com/md-journal/fulltext/2019/02220/multiple_risks_analysis_for_aplastic_anemia_in.34.aspx
    Our study results demonstrated a comprehensive epidemiological pattern, in which the joint contributions of individual inherited health status, environment exposure, and individual behaviors lead to the occurrence of AA. […] Most of epidemiologic surveys on AA were conducted in 1980s in China. A large national survey, which was implemented in 21 provinces of China between 1986 and 1988, reported that the incidence rate of AA was 7.4/106. […] The booming industry has worsened environmental pollution, and altered living environment and lifestyle of human beings over years. […] In recent years, plenty of studies have been carried out in China regarding AA. However, most of them were clinical case analysis, or focused on one single risk of AA, or had a small study sample. There have been few reports on the association between multiple risks and AA.
  • #12
    https://journals.lww.com/md-journal/fulltext/2019/02220/multiple_risks_analysis_for_aplastic_anemia_in.34.aspx
    To understand the risks associated with aplastic anemia (AA) in 4 cities of Zhejiang Province, China, with special focus on the joint contributions of multiple risks. […] The univariate logistic regression analysis results indicated that among all study participants (n = 1802), AA was associated with over 30 risks, in terms of their individual behaviors, daily and environmental exposures, diseases history, and family history. Multivariate logistic regression analysis further confirmed that the independent risks related to AA included presence of chemical factory within 3 km of living residence (odds ratio [OR] = 8.73, 95% CI: 1.4253.74, P = .019), living in a newly decorated house/apartment (OR = 25.37, 95% CI: 4.44144.81, P .001), vegetarian diet (OR = 131.60, 95% CI: 3.455020.16, P = .009), preference of sugar (OR = 89.38, 95% CI: 7.221106.44, P .001), preference of oily food (OR = 55.68, 95% CI: 5.12605.26, P .001), drinking lake water or pond water (OR = 58.05, 95% CI: 3.211049.81, P .001), habit of staying up late (OR = 11.87, 95% CI: 3.4341.02, P .001), infection history (OR = 10.08, 95% CI: 2.7536.93, P .001).
  • #12
    https://journals.lww.com/md-journal/fulltext/2019/02220/multiple_risks_analysis_for_aplastic_anemia_in.34.aspx
    Therefore, based on 10 years patients data in EDC from 5 medical centers in 4 cities, we designed this study to further confirm the association between varied risks and AA, and analyze the epidemic features of AA in China, by using hospital-based database. […] The results showed that the median number of risks was 2 (ranging 05) in the case group, and the median was 0 (ranging 06) in the control group. Every additional risk could increase the risk of AA by 6.156 times (95% CI: 5.0647.484). […] Our multivariate logistic regression analysis confirmed our hypothesis, and identified the following 8 risks that could jointly cause AA: presence of chemical factory within 3 km of living residence, living in newly decorated house/apartment, vegetarian diet, preference of sugar, preference of oily food, staying up late, drinking lake water or pond water, and infection history. In addition, the analysis on the number of risks showed that every additional risk could increase the risk of AA by 6.156 times. And our ROC analysis also found that AA was 13.835 times likely to occur when exposed to 1 risks than those exposed to 0 risks (95% CI: 9.99519.149).
  • #13 Facts About Aplastic Anemia | Fred Hutchinson Cancer Center
    https://www.fredhutch.org/en/diseases/aplastic-anemia/facts-resources.html
    Aplastic anemia is a very rare disorder in which the immune system mistakenly destroys bone marrow. Fewer than 1,000 people in the United States are diagnosed each year. […] Aplastic anemia is diagnosed with blood tests to count the types of blood cells circulating in the blood. When two or three of the cell counts is extremely low, that is a strong indication of aplastic anemia. […] Fred Hutch has researched and treated aplastic anemia for decades.
  • #14 Aplastic Anemia: Symptoms, Causes & Treatment
    https://my.clevelandclinic.org/health/diseases/16747-aplastic-anemia
    Aplastic anemia is a rare but serious blood disorder. Each year, 300 to 900 people in the United States receive an aplastic anemia diagnosis. Studies show aplastic anemia affects 2 in 1 million people in Europe. […] Anyone can develop aplastic anemia, but it typically affects people ages 15 to 25 and age 60 and older. […] Healthcare providers diagnose aplastic anemia by doing physical examinations, blood tests and genetic tests. […] Depending on your situation, a successful allogeneic stem cell transplantation may cure the condition. […] Many factors affect survival rates, including your age and your treatment. According to one study, overall 96% of people were alive after their stem cell transplantation. That same study showed 100% of children and adults under age 40 were alive five years after treatment.
  • #15 Aplastic Anemia: Diagnosis and Treatment | MDedge
    https://mdedge.com/jcomjournal/article/208651/hematology/aplastic-anemia-diagnosis-and-treatment
    Aplastic anemia is a rare disorder, with an incidence of approximately 1.5 to 7 cases per million individuals per year. […] A recent Scandinavian study reported that the incidence of aplastic anemia among the Swedish population is 2.3 cases per million individuals per year, with a median age at diagnosis of 60 years and a slight female predominance (52% versus 48%, respectively). […] This data is congruent with prior observations made in Barcelona, where the incidence was 2.34 cases per million individuals per year, albeit with a slightly higher incidence in males compared to females (2.54 versus 2.16, respectively). […] The incidence of aplastic anemia varies globally, with a disproportionate increase in incidence seen among Asian populations, with rates as high as 8.8 per million individuals per year. […] There appears to be a bimodal distribution, with incidence peaks seen in young adults and in older adults.
  • #16 Aplastic Anaemia: Causes and Treatment | Doctor
    https://patient.info/doctor/aplastic-anaemia
    The incidence is 2-3 per million per year in Europe, but higher in East Asia. […] There is a biphasic distribution, with peaks at 10-25 years and over 60 years. […] Certain histocompatibility locus specificities, especially HLA DR2, are associated with an underlying predisposition to acquired aplastic anaemia.
  • #17 Epidemiology of aplastic anemia: a study of 1324 cases – PubMed
    https://pubmed.ncbi.nlm.nih.gov/31906834/
    Prevalence of aplastic anemia (AA) is high in the Asian population. […] Study included 1324 consecutive AA cases registered at Armed Forces Bone Marrow Transplant Centre Rawalpindi, Pakistan, from March 2001 to August 2016. […] The median age of patients was 20 years, 997 were male and 327 female. […] The majority of patients were from low (n = 761, 57.5%) or middle socioeconomic class (n = 543, 41%). […] Consanguinity among patients (n = 806, 61%) was slightly higher than the national statistics. […] History of chemical exposures included fertilizers (n = 116, 8.7%), pesticides (n = 56, 4.2%) and industrial chemicals (n = 37, 2.8%). […] Younger age, male predominance and higher consanguinity point toward genetic factors in AA etiology among the South Asian population.
  • #18 Aplastic anemia – a population-based study of epidemiology, treatment, and prognostic factors
    https://gupea.ub.gu.se/handle/2077/64522
    Aplastic anemia (AA) is a rare but life-threatening disease. […] This thesis aimed to retrospectively analyze the incidence, treatment modalities, survival, and immune markers in the bone marrow of patients diagnosed with AA in Sweden from 2000-2011. […] We identified 257 confirmed cases, with an overall incidence of 2.35 cases per million inhabitants per year. […] The 5-year overall survival (OS) was 90% in patients aged up to 39 years but 38.1% in patients aged 60 years. […] Multivariate analysis showed that age 40 years, very severe AA, and no specific therapy were independent risk factors for inferior survival. […] First-line IST treated patients (n=158) showed a 47% response rate with no difference regarding the age groups or anti-thymocyte globulin (ATG) formulation. […] Sixty-eight patients underwent HSCT with a 5-year OS of 86.8%. […] In conclusion, younger patients have very good long-term survival regardless of the choice of therapy, whereas the outcome for patients 60 years remains poor. […] Very severe AA patients respond poorly to ATG, which indicates the need for a different treatment approach.
  • #19 Aplastic anemia in Pakistan | IJGM
    https://www.dovepress.com/an-investigation-of-selected-socio-demographic-factors-with-aplastic-a-peer-reviewed-fulltext-article-IJGM
    In Pakistan, the incidence rate of aplastic anemia is 3.5 cases/million. The associated risk factors are exposure to pesticides, chemicals, and some drugs. The link between aplastic anemia and socio-demographic factors is debatable. […] The socio-demographic factors such as living in rural settings, low socioeconomic status, illiteracy, and age 15 years are recognized as a risk factor of aplastic anemia. […] Low socioeconomic status and rural population have a significant association with increased risk of aplastic anemia as reported from low middle income countries. […] Illiteracy was also significantly associated with the risk of aplastic anemia, and the chance of aplastic anemia increased with no levels of education. […] In Pakistan, there was no published study on socio-demographic variables as a risk factor of aplastic anemia. Therefore, a large case-control study was done to explore the association between selected socio-demographic factors with aplastic anemia in Pakistan’s population.
  • #20 EPIDEMIOLOGY OF ACQUIRED APLASTIC ANEMIA: A RETROSPECTIVE 10-YEAR…. EHA Library. Seraj L. Jun 9 2021; 324166
    https://library.ehaweb.org/eha/2021/eha2021-virtual-congress/324166/liri.seraj.epidemiology.of.acquired.aplastic.anemia.a.retrospective.10-year.html?f=listing%3D3%2Abrowseby%3D8%2Asortby%3D1%2Amedia%3D1
    Aplastic Anemia (AA) is a syndrome characterized by peripheral blood pancytopenia with hypo cellular marrow. Acquired idiopathic AA is still the most common variety. Aplastic anemias incidence varies in different geographic areas. In Albania the epidemiology of Acquired AA has not been identified by any study up to now. […] The aim of this study is to identify and describe the epidemiology, including the incidence of Acquired AA in Albania. […] A total of 35 patients were diagnosed as Aplastic Anemia between 2010-2020. The incidence of Acquired Aplastic Anemia in Albania is 1.35 per million inhabitants. […] The incidence of AA in Albania is lower compared to other studies performed in Europe.
  • #21 Vietnam Aplastic Anemia Incidence Survey | Slone Epidemiology Center
    https://www.bu.edu/slone/research/studies/vietnam-aplastic-anemia/
    It has been suggested that the incidence of aplastic anemia may be extraordinarily high in the Ho Chi Minh City (HCMC) region of Vietnam. The survey was designed to provide an accurate figure. […] Among males the annual incidence was shown to be approximately five cases per million, similar to that in Thailand, where it is about twice as high as in Europe.
  • #22 Aplastic Anemia-Related Mortality in Brazil, 2000-2018
    https://clinmedjournals.org/articles/ijbrd/international-journal-of-blood-research-and-disorders-ijbrd-9-073.php?jid=ijbrd
    Nationwide population aplastic anemia-related mortality is rare in the world medical literature. […] The annual AA mortality data was extracted from the public databases of the Mortality Information System, searching category D61 „other aplastic anemias” of the International Classification of Diseases, Tenth Revision. […] In Brazil, 2000 to 2018, 35,523 deaths related to AA occurred, 13.629 (38.4%) as underlying cause, and 21,894 (61.6%) as associated (non-underlying) cause of death. Average standardized mortality rates were for underlying, associated and all mentions cause deaths, respectively, 4.02, 6.40 and 10.42 deaths per million population. […] The Brazilian national mortality statistics derive from death certificates that are supplied by doctors, or prepared through testimonies from witnesses, and are documented in Civil Registry Offices.
  • #22 Aplastic Anemia-Related Mortality in Brazil, 2000-2018
    https://clinmedjournals.org/articles/ijbrd/international-journal-of-blood-research-and-disorders-ijbrd-9-073.php?jid=ijbrd
    The demographic and medical data on death certificates are coded and processed by vital statistic or epidemiological surveillance services in the federal states and are sent to the Ministry of Health to be consolidated as data from the whole country. […] This study aims to describe causes of death and mortality issues related to AA based on death certificates data with the use of multiple-cause-of-death methodology. […] Mortality rates (per 1,000,000 population) for AA were calculated-by year and for the study period (2000-2018) as a whole-based on the number of deaths that had been identified as the underlying cause or as an associated (non-underlying) cause, as well as on the overall number of its mentions. […] The observed AA averaged standardized overall mortality rate of 10.42 deaths per million population is equivalent to the estimated crude death rate of 8.9 deaths per million population verified in the United States in 1984, as well as the corresponding underlying cause of death rates of 4.02 and 4.90 per million inhabitants, respectively in Brazil and United States. […] This study has confirmed infectious diseases as a leading associated (non-underlying) cause of death, accounting 48.9% and 42.6%, respectively, among AA underlying and non-underlying deaths, where septicemias prevail, tallying above 47% overall deaths.
  • #23
    https://journals.lww.com/jpho-online/Fulltext/2011/04000/Epidemiology_and_Clinical_Long_term_Outcome_of.2.aspx?generateEpub=Article%7Cjpho-online:2011:04000:00002%7C%7C
    Aplastic anemia (AA) is a rare hematologic disease characterized by pancytopenia and hypocellular marrow. The Korean Society of Pediatric Hematology Oncology investigated retrospectively the incidence, survival, and transfusion independency according to treatment strategies in AA. […] The annual incidence of Korean children with AA was 5.16 per million per year. […] Long-term outcome in AA was dependent on treatment strategies. These Korean results may help research and prospective international clinical trials for childhood AA.
  • #24 Evaluation of Case Reports of Aplastic Anemia in Felbamate Users | Slone Epidemiology Center
    https://www.bu.edu/slone/research/studies/aplastic-anemia-felbamate/
    To determine the scope of the problem of felbamate-induced aplastic anemia, based on an evaluation of the case reports against the background of existing knowledge about the etiology of the disease. […] A total of 23 cases were confirmed as aplastic anemia; felbamate was judged to be the only or most plausible cause for 11 of them. The incidence of aplastic anemia among users was estimated to be between 27-209 cases per million per year, with a most probable value of 127 per million.
  • #25 COVID-19 and Aplastic Anemia: Friend or Foe
    http://clinmedjournals.org/articles/ijbrd/international-journal-of-blood-research-and-disorders-ijbrd-8-064.php?jid=ijbrd
    Aplastic anemia is a rare disease with incidence reported in United States 2.34 cases per million population per year. […] Aplastic anemia is associated with immunosuppressed state either due to the disease itself or due to the immunosuppressive medications given to treat these patients. […] The flip side of this is that the immunosuppressed state in aplastic anemia leads to not only the increased risk of contracting highly contagious SARS-CoV-2 infection but also it increases the chances of developing the severe disease. […] This case report sensitizes the physicians to the fact that the aplastic anemia patients if develops COVID-19 pneumonia can be successfully managed and usually undergo uncomplicated course probably because of the immunosuppressed state which prevents hyper-inflammatory response.
  • #26 Aplastic Anaemia | CancerIndex
    http://www.cancerindex.org/clinks4x.htm
    Anaplastic Anemia is not a cancer. AA is a rare disease in which the bone marrow is unable to produce adequate blood cells; leading to pancytopenia (deficiency of all types of blood cells). AA may occur at any age, but there is a peak in adolescence / early adulthood, and again in old age. Slightly more males than females are diagnosed with AA, also the disease is more common in the Far East. Patients successfully treated for aplastic anemia have a higher risk of developing other diseases later in life, including cancer. […] Fanconi anemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA. The early diagnosis of FA is important and provides improved opportunities for early intervention, but remains challenging.
  • #27 Secondary malignancies after transplantation for aplastic anemia | Bone Marrow Transplantation
    https://www.nature.com/articles/s41409-021-01400-z
    Aplastic anemia (AA) is a rare non-malignant hematological disorder for which allogeneic transplantation has been proved to be a curative option almost 50 years ago. […] In this issue Vo et al. report another disappointing late effect of transplantation in AA, i.e., secondary malignancies. The 26-year cumulative incidence of cancer was 11%, representing a twofold increased rate relative to the USA general population. […] The overall type of solid tumors fit with what has been previously in large series that included different malignant diseases but only two were restricted to patients with AA. […] Finally, a recent case-control study found an increased risk of both SCC and BCC in photodamaged skin in transplant recipients. […] The study by Vo and coworkers provides the most useful information for the long-term follow-up of patients transplanted for AA. It reinforces the critical need for life-long surveillance of late effects and obviously should stimulate such studies on late effect post-transplantation, in particular on late effect post transplantation from unrelated donor in patients with AA for whom we almost completely lack data.
  • #28 Cytokines help suggest aplastic anemia with pulmonary bacterial or co-fungal infection | Scientific Reports
    https://www.nature.com/articles/s41598-022-22503-7
    Cytokines are abnormally expressed in AA in pulmonary infection, and the abnormal increase in IL-6 suggests that the patient has a pulmonary bacterial infection. However, when IL-8 and IL-6 are elevated simultaneously, it may indicate that the patient has a bacterial and fungal infection. These findings may help suggest bacterial or concurrent bacterial and fungal infections in the lungs of SAA and VSAA patients. […] Infection is prevalent in AA with bone marrow failure because immunosuppression is prevalent during the treatment of hematological diseases Among them, SAA and VSAA are the most frequently infected in clinic. […] The common clinical types of AA are severe aplastic anemia and severe aplastic anemia. In our study cohort, there are 70 VSAA patients and 217 SAA patients. By comparison, we found that only IL-8 had statistical difference in patients without infection, only IL-6 had statistical difference in patients with pulmonary bacterial infection, and IL-12P70 and INF- in patients with pulmonary bacterial and fungal infection had statistical difference.
  • #29 Testing for IBMFS in Patients with Severe Aplastic Anemia – NCI
    https://dceg.cancer.gov/news-events/news/2022/genetic-testing-before-hct-ssa
    They found that patients who had unrecognized IBMFS but received standard SAA treatment did worse than those with acquired SAA receiving the same treatment. […] However, there is growing recognition that these disorders can present without physical features and/or family history, leading to delayed or misdiagnosis, particularly in adults.
  • #29 Testing for IBMFS in Patients with Severe Aplastic Anemia – NCI
    https://dceg.cancer.gov/news-events/news/2022/genetic-testing-before-hct-ssa
    Individuals who receive hematopoietic cell transplant for treatment (HCT) of severe aplastic anemia (SAA) can benefit from genetic testing prior to treatment initiation to determine if they have an unrecognized inherited bone marrow failure syndrome (IBMFS) and therefore need disease-specific HCT regimens and follow-up plans, according to a new study published July 1, 2022, in the journal Blood. […] SAA is a bone marrow failure disorder that can be caused by immune-mediated mechanisms or rare germline pathogenic variant(s). […] Lisa J. McReynolds, M.D., Ph.D., assistant clinical investigator, Maryam Rafati, M.D., Ph.D., geneticist, and colleagues, in the Clinical Genetics Branch, evaluated over 700 patients who underwent HCT for SAA in the NCI-CIBMTR Transplant Outcomes in Aplastic Anemia (TOAA) study.
  • #30 Molecular and Genetic Mechanisms in Bone Marrow Failure Syndromes and Myeloid Neoplasia 
    https://consultqd.clevelandclinic.org/molecular-and-genetic-mechanisms-in-bone-marrow-failure-syndromes-and-myeloid-neoplasia
    The first of these key studies found that the progression of aplastic anemia to MN is characterized by certain leukemogenic mutations or mutations in human leukocyte antigen (HLA), enabling clonal escape from immune surveillance. […] Researchers analyzed the progression from aplastic anemia to MDS to better understand the landscape of disease. […] The analysis of myeloid and HLA panels revealed that, at the time of evolution, 34 of 38 patients had at least one of 148 somatic mutations detected, with an average of four somatic hits discovered per patient. […] In the second study, investigators aimed to define the contribution of pathogenic germline genetic variants to the development of BMFS and MN in adults. […] The team discovered that 10% of patients in the BMFS cohort had pathogenic and likely pathogenic germline variants (Tier-1), and 44% had suspicious germline variants of unproven clinical significance (Tier-2).
  • #31 Aplastic anemia Market: Epidemiology, Therapies, Companies,
    https://www.openpr.com/news/4004056/aplastic-anemia-market-epidemiology-therapies-companies
    Aplastic anemia therapies, such as PF-06462700, REGN7257, BL-8040, and others, are expected to boost the Aplastic anemia Market in the upcoming years. […] DelveInsight has launched a new report on „Aplastic anemia – Market Insights, Epidemiology, and Market Forecast-2034” that delivers an in-depth understanding of the Aplastic anemia, historical and forecasted epidemiology as well as the Aplastic anemia market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan. […] Its global incidence ranges from 0.7 to 7.4 cases per million people annually, with significantly higher rates observed in Asia compared to Europe and the U.S. […] Notably, among the 7MM, Japan recorded the highest number of incident Aplastic Anemia cases in 2023, accounting for around 30% of the total.
  • #32 Aplastic anemia: epidemiology, diagnosis, treatment, and health economics | HSTalks
    https://hstalks.com/t/5385/aplastic-anemia-epidemiology-diagnosis-treatment-a/
    Hello. My name is Shinji Nakao. I’m now working at the Japanese Red Cross Ishikawa Blood Center as the Director General. I’m going to talk about the epidemiology, diagnosis, treatment and health economics of aplastic anemia. […] The estimated annual incidence of AA is 1.5 – 2.3 per million in Western countries, while in Asian countries the incidence is 3.0 – 7.5 per million, two to three times higher than in Western countries. There are two age peaks. One is around 20 years of age, and the other is around 70 years. […] AA is not really only an anemia, but instead is a pancytopenia in which leukopenia, anemia and thrombocytopenia are almost always found, and is defined as a syndrome caused by a persistent decrease in the number of HSCs without any extrinsic factors, such as chemotherapies and chemicals.
  • #33 Aplastic Anemia | Concise Medical Knowledge
    https://www.lecturio.com/concepts/aplastic-anemia/
    Varying incidence worldwide […] Incidence in Europe: 2.35 per 1 million […] Incidence in Asia: 7 per 1 million […] Acquired aplastic anemia: biphasic age distribution major peak in the teens to twenties; 2nd peak in the elderly.