Hemofilia – Epidemiologia

Hemofilia
Epidemiologia

Hemofilia to dziedziczne zaburzenie krzepnięcia krwi, głównie u mężczyzn, spowodowane niedoborem czynnika VIII (hemofilia A) lub IX (hemofilia B). Częstość występowania hemofilii A wynosi około 1:5 000 żywo urodzonych chłopców, a hemofilii B około 1:30 000. Hemofilia C (niedobór czynnika XI) jest rzadsza, z częstością 1:100 000, ale częstsza wśród Żydów aszkenazyjskich (ok. 8%). Hemofilia dzieli się na trzy stopnie ciężkości w zależności od poziomu aktywności czynnika krzepnięcia: ciężka (<1%), umiarkowana (1-5%) i łagodna (>5%). Ciężka postać stanowi około 60% przypadków i generuje największe koszty leczenia. Rozwój inhibitorów przeciwko czynnikom krzepnięcia występuje u 25-30% pacjentów z ciężką hemofilią A i 3-5% z ciężką hemofilią B, co komplikuje terapię i zwiększa koszty opieki. Epidemiologia wskazuje na wzrost liczby diagnozowanych przypadków hemofilii, co wiąże się z lepszą diagnostyką i wydłużeniem życia pacjentów.

Epidemiologia Hemofilii

Hemofilia jest rzadkim, dziedzicznym zaburzeniem krzepnięcia krwi, występującym przede wszystkim u mężczyzn ze względu na dziedziczenie sprzężone z chromosomem X. Choroba charakteryzuje się niedoborem lub brakiem czynników krzepnięcia – czynnika VIII w hemofilii A lub czynnika IX w hemofilii B, co prowadzi do nieprawidłowego krzepnięcia krwi i zwiększonej skłonności do krwawień¹².

Rozpowszechnienie globalne

Hemofilia występuje we wszystkich grupach etnicznych na całym świecie. Szacuje się, że na świecie żyje około 400 000 osób z hemofilią¹. Według danych Światowej Federacji Hemofilii (WFH), częstość występowania hemofilii w populacji ogólnej szacuje się na około 1:12 000, natomiast częstość występowania przy urodzeniu wynosi około 1:5 000 wśród mężczyzn²³.

Najnowsze badania sugerują, że globalne rozpowszechnienie hemofilii może być wyższe niż wcześniej szacowano. Metaanaliza danych z rejestrów w krajach z kompleksowymi systemami rejestracji (Australia, Kanada, Francja, Włochy, Nowa Zelandia i Wielka Brytania) wykazała, że na 100 000 mężczyzn przypada 17 przypadków hemofilii A wszystkich stopni ciężkości, 6 przypadków ciężkiej hemofilii A, 4 przypadki hemofilii B wszystkich stopni ciężkości oraz 1 przypadek ciężkiej hemofilii B¹. Przekłada się to na około 1,13 miliona mężczyzn z hemofilią na całym świecie, z czego około 418 000 ma ciężką postać hemofilii, a większość z nich nie została zdiagnozowana².

Rozpowszechnienie w Stanach Zjednoczonych

W Stanach Zjednoczonych szacuje się, że z hemofilią żyje około 30 000-33 000 mężczyzn¹²³. Według Centers for Disease Control and Prevention (CDC), hemofilia występuje u około 1 na 5 617 żywo urodzonych chłopców¹. Dane z badania przeprowadzonego przez CDC, wykorzystującego informacje zebrane od pacjentów otrzymujących opiekę w federalnie finansowanych ośrodkach leczenia hemofilii (Hemophilia Treatment Centers, HTCs) w latach 2012-2018, potwierdzają tę liczbę¹.

Badanie Soucie i współpracowników wykazało, że skorygowana względem wieku częstość występowania obu typów hemofilii wynosiła 15,7 przypadków na 100 000 mężczyzn (12,0 dla hemofilii A i 3,7 dla hemofilii B)¹. Na podstawie danych dotyczących 9 587 osób z hemofilią urodzonych w okresie indeksowym, średnia częstość występowania hemofilii wynosiła 1 przypadek na 4 334 żywo urodzonych chłopców¹.

Rozpowszechnienie według typów

Hemofilia A jest bardziej rozpowszechniona (80-85% całkowitej populacji osób z hemofilią) niż hemofilia B¹². Hemofilia A występuje u około 1 na 5 000 żywo urodzonych chłopców, podczas gdy hemofilia B występuje u około 1 na 30 000 żywo urodzonych chłopców¹². Hemofilia C (niedobór czynnika XI) występuje generalnie u 1 na 100 000 osób, jednak wśród Żydów aszkenazyjskich częstość niedoboru czynnika XI jest wyższa i wynosi około 8%¹².

Według Narodowej Fundacji Hemofilii, procentowy rozkład całkowitej populacji osób z hemofilią według stopnia ciężkości wynosi: 60% – ciężka, 15% – umiarkowana i 25% – łagodna postać choroby¹. Ponad połowa osób zdiagnozowanych z hemofilią A ma ciężką postać choroby¹.

Czynniki demograficzne

Hemofilia występuje we wszystkich grupach etnicznych i rasowych. Ogólnie rzecz biorąc, demografia hemofilii odzwierciedla rozkład rasowy w danej populacji; na przykład, częstość występowania hemofilii wśród białych, czarnych i latynoskich mężczyzn w Stanach Zjednoczonych jest podobna¹.

Ze względu na to, że hemofilia jest stanem dziedziczonym w sposób recesywny, sprzężony z chromosomem X, występuje głównie u mężczyzn. Kobiety są zwykle bezobjawowymi nosicielkami. Jednak nosicielki mogą mieć łagodną hemofilię. W jednym z badań, pięć z 55 pacjentów z łagodną hemofilią (poziom czynnika IX 5-50%) stanowiły dziewczynki¹. U około 30% nosicielek aktywność czynnika VIII lub IX jest niższa niż 40%, co może prowadzić do nieprawidłowych krwawień¹.

Hemofilia występuje najczęściej u pacjentów z historią rodzinną hemofilii, z przewagą u mężczyzn (ze względu na dziedziczenie recesywne sprzężone z chromosomem X). Jednak warto zauważyć, że sporadyczne przypadki hemofilii A i B (gdzie żeński rodzic nie jest nosicielem) nie są rzadkością. W jednym z badań, 55% pacjentów z ciężką hemofilią A i 43% pacjentów z ciężką hemofilią B stanowiły przypadki sporadyczne. W łagodnej i umiarkowanej hemofilii A i B, 30% przypadków było sporadycznych¹.

**Porównanie głównych typów hemofilii**
Cecha	Hemofilia A	Hemofilia B	Hemofilia C
Niedobór czynnika	Czynnik VIII	Czynnik IX	Czynnik XI
Częstość występowania przy urodzeniu	1 na 5 000 mężczyzn	1 na 30 000 mężczyzn	1 na 100 000 osób
Udział w całkowitej populacji z hemofilią	80-85%	14%	1-6%
Częstość rozwoju inhibitorów	25-30% w ciężkiej postaci	3-5% w ciężkiej postaci	około 10% w ciężkiej postaci
Szczególne grupy ryzyka	Ogólna populacja męska	Ogólna populacja męska	Żydzi aszkenazyjscy (częstość około 8%)

Rozkład stopnia ciężkości

Hemofilia dzieli się na trzy kategorie ciężkości w zależności od poziomu aktywności czynnika krzepnięcia¹:

Ciężka – poziom czynnika <1% normy
Umiarkowana – poziom czynnika 1-5% normy
Łagodna – poziom czynnika >5% normy

Stopień ciężkości ma silny wpływ na koszty opieki w hemofilii. Pacjenci z ciężką postacią choroby generują większość kosztów związanych z leczeniem hemofilii¹. W Stanach Zjednoczonych około 40% pacjentów z hemofilią ma ciężką postać choroby¹.

Systemy nadzoru nad hemofilią

Ze względu na rzadkość występowania, złożoność kliniczną i wyzwania związane z jednolitym identyfikowaniem przypadków oraz śledzeniem powikłań zdrowotnych, nadzór nad hemofilią jest trudnym zadaniem¹². W odpowiedzi na te wyzwania, rozwinięto specjalistyczne systemy nadzoru nad hemofilią.

Systemy nadzoru CDC

W ciągu ostatnich 20 lat Centers for Disease Control and Prevention (CDC) prowadziło nadzór zdrowia publicznego, aby lepiej zrozumieć charakterystykę i powikłania występujące w populacji osób z zaburzeniami krzepnięcia¹. W tym czasie opracowano dwa główne systemy nadzoru:

System Universal Data Collection (UDC)

W latach 1998-2011 CDC i ośrodki leczenia hemofilii (HTCs) współpracowały przy tworzeniu systemu nadzoru Universal Data Collection (UDC)¹. Celem systemu nadzoru UDC było monitorowanie zakażeń wirusem HIV i krwiopochodnych zapaleń wątroby u osób z hemofilią, śledzenie bezpieczeństwa krwi oraz monitorowanie częstości występowania i trendów w powikłaniach związanych z hemofilią¹.

System Community Counts

W 2011 roku system nadzoru UDC został zastąpiony nowym systemem nadzoru nad hemofilią o nazwie Community Counts¹². CDC i ośrodki HTC ustanowiły Community Counts, aby rozszerzyć badania laboratoryjne i gromadzenie danych klinicznych w celu lepszej identyfikacji i śledzenia pojawiających się problemów zdrowotnych u osób z hemofilią¹.

Community Counts jest programem monitorowania zdrowia publicznego finansowanym przez Wydział Zaburzeń Krwi CDC. Celem tego projektu jest gromadzenie i udostępnianie informacji o powszechnych problemach zdrowotnych, powikłaniach medycznych i przyczynach śmierci, które dotykają osoby z zaburzeniami krzepnięcia objęte opieką w amerykańskich ośrodkach leczenia hemofilii (HTCs)¹. Program jest prowadzony przez Wydział Zaburzeń Krwi CDC wraz z partnerami, American Thrombosis and Hemostasis Network (ATHN) i U.S. Hemophilia Treatment Center Network (USHTCN)¹.

Rejestr Community Counts gromadzi szczegółowe informacje o pacjentach, którzy byli badani w federalnie finansowanych ośrodkach leczenia hemofilii (HTCs) od grudnia 2013 roku i którzy wyrazili zgodę na udostępnianie swoich danych¹. Projekt obejmuje ponad 140 ośrodków HTC w całym kraju i ponad 142 000 pacjentów¹.

Rejestr zbiera informacje o charakterystyce pacjentów, diagnozach, epizodach krwawienia (w tym krwawienia do stawów i/lub mózgu), historii inhibitorów, leczeniu (w tym środkach zapobiegawczych), stosowaniu produktów leczniczych i obecności innych stanów medycznych¹². W ramach Community Counts próbki krwi od osób uczestniczących w Rejestrze są badane w centralnym laboratorium, aby dowiedzieć się więcej o inhibitorach i chorobach zakaźnych, takich jak zapalenie wątroby typu C i HIV¹.

Międzynarodowe systemy nadzoru

Poza Stanami Zjednoczonymi funkcjonują również inne systemy nadzoru nad hemofilią, takie jak:

EUHASS (European Haemophilia Safety Surveillance)

EUHASS jest programem nadzoru farmakologicznego służącym monitorowaniu bezpieczeństwa leczenia osób z dziedzicznymi zaburzeniami krzepnięcia w Europie. Ośrodki leczenia hemofilii zgłaszają zdarzenia niepożądane bezpośrednio na stronie internetowej EUHASS, a następnie regularnie produkowane są raporty z nadzoru¹.

CHESS (Canadian Hemophilia Surveillance System)

CHESS jest systemem nadzoru wdrożonym w Kanadzie, kompatybilnym z systemem EUHASS i Canadian Health Registry (CHR)/Canadian Hemophilia Assessment and Resource Management information System (CHARMS)¹. Celem CHESS jest monitorowanie bezpieczeństwa leczenia osób z hemofilią w Kanadzie¹ oraz wspieranie poprawy bezpieczeństwa pacjentów poprzez stworzenie kanadyjskiej sieci do monitorowania i komunikacji informacji zdrowotnych i danych dotyczących bezpieczeństwa leczenia¹.

Inne rejestry

Dane z kilku rejestrów nabytej hemofilii A (AHA) zostały opublikowane, w tym rejestry EACH2 (European ACquired Haemophilia), SACHA (Surveillance des Auto-antiCorps au cours de l’Hémophilie Acquise) i GTH (Gesellschaft für Thrombose- und Hämostaseforschung) w Europie, a także rejestr HTRS (Hemostasis and Thrombosis Research Society) w USA¹.

Znaczenie nadzoru epidemiologicznego w praktyce klinicznej

Dane generowane z systemów nadzoru nad hemofilią są wykorzystywane do opracowywania wytycznych i praktyk zdrowia publicznego i klinicznych w celu poprawy bezpieczeństwa amerykańskich produktów krwiopochodnych oraz zapobiegania powikłaniom związanym z hemofilią lub wczesnego ich wykrywania¹.

Poprawa opieki i wyników leczenia

Badanie sponsorowane przez CDC wykazało, że dzieci, które były leczone regularnie w celu zapobiegania krwawieniom (opieka profilaktyczna), miały mniejsze oznaki uszkodzenia stawów w wieku 6 lat niż te, które były leczone dopiero po rozpoczęciu krwawienia (opieka epizodyczna)¹. Sześcioletnie badanie pacjentów w 17 amerykańskich ośrodkach leczenia hemofilii wykazało, że wszyscy pacjenci z hemofilią mogą być narażeni na ryzyko wystąpienia inhibitora, a regularne badania przesiewowe w kierunku inhibitora są ważne¹.

Badanie CDC wykazało, że wskaźnik pobytów w szpitalu z powodu zdarzeń związanych z krwawieniem wśród pacjentów leczonych w ośrodkach HTCs był o 40% niższy niż wskaźniki dla pacjentów leczonych w innych placówkach¹. Pacjenci leczeni w ośrodkach HTCs mają o 40% mniejsze prawdopodobieństwo śmierci z powodu powikłań związanych z hemofilią niż ci leczeni gdzie indziej¹².

Rola ośrodków leczenia hemofilii (HTCs)

Najlepszym miejscem dla pacjentów z hemofilią do diagnozy i leczenia jest jeden z federalnie finansowanych ośrodków leczenia hemofilii (HTCs), które są rozmieszczone w całym kraju¹. HTCs zapewniają kompleksową opiekę ze strony wykwalifikowanych hematologów i innego personelu profesjonalnego, w tym pielęgniarek, fizjoterapeutów, pracowników socjalnych, a czasem stomatologów, dietetyków i innych dostawców opieki zdrowotnej, w tym specjalistycznych laboratoriów do bardziej dokładnych badań laboratoryjnych¹.

Krajowe ośrodki HTCs leczą ponad 35 000 osób z dziedzicznymi zaburzeniami krzepnięcia, co stanowi szacunkowo 80 procent całej populacji osób z zaburzeniami krzepnięcia¹. Rejestr zbiera informacje tylko o pacjentach leczonych w ośrodkach HTCs (szacunkowo 70 procent osób z hemofilią) i nie można ich uogólniać na osoby nieleczone w ośrodkach HTCs¹.

Zachęca się pacjentów do szukania opieki w ośrodku HTC, ponieważ zmniejsza to prawdopodobieństwo śmierci z powodu powikłań związanych z hemofilią o 40%¹. Około 70% pacjentów z hemofilią w Stanach Zjednoczonych otrzymuje opiekę za pośrednictwem ośrodków HTCs¹.

Obciążenie ekonomiczne

Pomimo względnie niskiej częstości występowania, hemofilia jest związana z wysokimi łącznymi kosztami¹. Postępy w opiece nad hemofilią doprowadziły do dłuższego przeżycia i rosnącej populacji pacjentów, a także większej złożoności w zarządzaniu chorobą i rosnących kosztów leczenia¹.

Hemofilia A i B razem zajmują miejsce wśród najdroższych chorób przewlekłych w Stanach Zjednoczonych¹. Głównym elementem opieki nad hemofilią jest dożywotnie leczenie terapią zastępczą czynnikami krzepnięcia, która jest stosowana zarówno w profilaktyce, jak i w leczeniu na żądanie¹.

Koszty pośrednie również przyczyniają się do dużego obciążenia ekonomicznego i obejmują utratę produktywności przez osoby chorujące i opiekunów, nieopłacone koszty opiekunów oraz niepełnosprawność związaną z hemofilią¹.

Powikłania i współchorobowość

Dzięki znacznym postępom w opiece nad hemofilią, które zmaterializowały się szczególnie w ciągu ostatnich dwóch dekad, coraz więcej osób z hemofilią (PWH) osiąga jakość życia i oczekiwaną długość życia bardzo zbliżoną do osób niechorujących¹. W rezultacie hematolodzy stają obecnie przed rosnącą populacją starszych osób z hemofilią, u których rozwijają się choroby związane z wiekiem, w tym choroby układu sercowo-naczyniowego (CVD), nowotwory i choroby nerek¹.

Dzieci z nawracającymi wylewami dostawowymi są narażone na wysokie ryzyko rozwoju ciężkiej artropatii i przykurczów stawów w późniejszym życiu¹. Długoterminowe powikłania mogą znacząco przyczyniać się do ogólnego obciążenia hemofilią¹.

Rozwój inhibitorów jest poważnym powikłaniem jatrogennym związanym z leczeniem hemofilii. Inhibitory to specyficzne przeciwciała (IgG), które rozwijają się przeciwko preparatom czynnika krzepnięcia VIII lub IX stosowanym w terapii. Rozwój inhibitorów jest częściej obserwowany w hemofilii A (25%-30% pacjentów) w porównaniu z hemofilią B (3%-5% pacjentów)¹. Częste infuzje zwiększają ryzyko infekcji i mogą również prowadzić do rozwoju przeciwciał przeciwko podawanym czynnikom (inhibitory czynnika). Tworzenie inhibitorów czynnika występuje u 30-35% pacjentów z ciężką hemofilią A i 5-15% pacjentów z ciężką hemofilią B¹.

Leczenie osób, u których rozwijają się inhibitory, jest złożone i jest jednym z największych wyzwań w dzisiejszej opiece nad hemofilią¹. Koszt opieki nad pacjentami z wysokimi mianami inhibitorów jest rutynowo wyższy niż w przypadku pacjentów bez inhibitorów¹.

Przyszłe trendy w epidemiologii hemofilii

Prognoza epidemiologiczna hemofilii sugeruje, że obciążenie chorobą hemofilią będzie stale rosnąć w czasie, głównie ze względu na poprawę diagnostyki, wydłużenie oczekiwanej długości życia i szerszy dostęp do leczenia¹.

Trendy w rozpowszechnieniu

Diagnozowane przypadki hemofilii A i B mają wzrosnąć na ośmiu głównych rynkach (USA, Francja, Niemcy, Włochy, Hiszpania, Wielka Brytania, Japonia i Chiny) z 67 051 przypadków w 2018 roku do 67 678 przypadków w 2028 roku, przy rocznym wskaźniku wzrostu (AGR) wynoszącym 0,09%¹. Prognozuje się również wzrost diagnozowanych przypadków nabytej hemofilii z 2 163 przypadków w 2018 roku do 2 215 przypadków w 2028 roku, przy AGR wynoszącym 0,24% w okresie prognozy¹.

W 2020 roku całkowita liczba diagnozowanych przypadków hemofilii A w Stanach Zjednoczonych wynosiła 14 630 i oczekuje się, że wzrośnie w okresie badania, tj. 2018-2030¹. W tym samym roku w UE-5 łączna liczba przypadków hemofilii A wynosiła 23 284 i również prognozuje się jej wzrost¹. W Japonii całkowita liczba przypadków hemofilii A wynosiła 5 329 w 2020 roku¹.

Rozwój inhibitorów

W siedmiu głównych rynkach około 30% przypadków ciężkiej hemofilii A rozwija inhibitory, co daje 6 422 pacjentów z inhibitorami w 2020 roku. Dodatkowo, u 70% przypadków hemofilii A nie zaobserwowano inhibitorów. Liczba przypadków dla obu kategorii będzie rosnąć w okresie badania¹.

Mimo że hemofilia była postulowana jako czynnik chroniący przed rozwojem chorób układu krążenia (CVD) ze względu na podstawową hipokoagulację, dokładna częstość występowania chorób układu krążenia u osób z hemofilią nie jest znana¹. Podczas gdy szereg badań wykazał, że osoby z hemofilią mają niższą śmiertelność z powodu choroby wieńcowej (CAD) niż dopasowana wiekowo populacja męska, nowsze dane wskazują, że częstość występowania CAD u osób z hemofilią wzrasta wraz z wiekiem¹.

Dowody z literatury wskazują, że częstość występowania CVD u osób z hemofilią jest co najmniej równa częstości występowania u ich rówieśników bez hemofilii¹. Zalecenia oparte na dowodach dotyczące postępowania z CVD u osób z hemofilią są ograniczone ze względu na brak badań klinicznych¹.

Migotanie przedsionków jest główną przyczyną udaru mózgu pochodzenia zatorowego i jest bardzo powszechną chorobą układu krążenia w starzejącej się populacji¹. W związku z tym częstość występowania tej arytmii stale rośnie u osób z hemofilią, ponieważ nie są one naturalnie chronione przed migotaniem przedsionków ani przed wynikającymi z niego powikłaniami zakrzepowo-zatorowymi¹.

Oczekiwana długość życia

Różnica w oczekiwanej długości życia dla pacjentów z hemofilią jest znacznie gorsza w krajach o niższych dochodach, gdzie brak leczenia wpłynął na populację z hemofilią i spowodował spadek oczekiwanej długości życia o około 64 procent, 77 procent i 93 procent odpowiednio dla krajów o wyższych średnich, niższych średnich i niskich dochodach, zgodnie z definicjami Banku Światowego¹.

Dzięki nowym postępom w skuteczności i długości działania produktów leczniczych, a także udanej terapii genowej, oczekuje się zmniejszenia krwawień i innych powikłań, co może wymagać mniej częstych kontroli¹.

Zalecenia dla opieki zdrowotnej

CDC z powodzeniem opracowało, wdrożyło i utrzymuje system nadzoru nad hemofilią. Program może służyć jako przykład prowadzenia nadzoru nad złożoną chorobą przewlekłą poprzez angażowanie interesariuszy, poprawę i budowę nowej infrastruktury, rozszerzanie gromadzenia danych, zapewnianie wytycznych dotyczących badań, ustanawianie rejestru z pobieraniem próbek oraz integrację wyników laboratoryjnych w praktyce klinicznej dla indywidualnego pacjenta¹.

Poprzez monitorowanie danych z Community Counts, CDC będzie nadal charakteryzować korzyści i zdarzenia niepożądane związane z istniejącymi lub nowymi produktami do leczenia hemofilii, przyczyniając się tym samym do maksymalizacji zdrowia i długowieczności osób z hemofilią¹².

Wybór podejścia do leczenia (profilaktyka lub leczenie na żądanie) może wpływać na koszty w krótkim i długim okresie¹. Profilaktyka została uznana za standard opieki w leczeniu pacjentów z ciężką hemofilią i powinna być rozpoczynana w młodym wieku¹. Choć istnieje kilka protokołów profilaktyki czynnikami, nadal istnieją luki w opartej na dowodach wiedzy dotyczącej doboru pacjentów, dawkowania i czasu trwania leczenia. Zalecenia dotyczące profilaktyki powinny być nadal dostosowywane do każdego indywidualnego przypadku¹.

Praca z ośrodkami HTC pozwala pacjentom na otrzymywanie rocznych kompleksowych ocen opieki i przekazywanie zaleceń dotyczących leczenia ich lekarzowi podstawowej opieki zdrowotnej, zapewniając ciągłość opieki¹.

Potrzebne są dodatkowe badania i edukacja, aby zrozumieć wpływ ubezpieczenia zdrowotnego na opiekę nad hemofilią i wydatki, ocenić strategie leczenia oraz wdrożyć strategie poprawy wyników i zmniejszenia kosztów opieki¹. Programy zarządzania wykorzystaniem mogą być stosowane, aby pomóc zapewnić optymalne wykorzystanie czynnika krzepnięcia i środków¹. Kluczowe jest dostosowanie protokołów leczenia i zarządzania do skutecznego zarządzania przypadkami hemofilii¹.

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

Materiały źródłowe

#1 Evaluation of CDC’s Hemophilia Surveillance Program – Universal Data Collection (1998-2011) and Community Counts (2011-2019), United States – PubMed
https://pubmed.ncbi.nlm.nih.gov/32881847/
Hemophilia is an X-linked genetic disorder that primarily affects males and results in deficiencies in blood-clotting proteins. Hemophilia A is a deficiency in factor VIII, and hemophilia B is a deficiency in factor IX. Approximately one in 5,000 males are born with hemophilia, and hemophilia A is about four times as common as hemophilia B. […] Although no precise national U.S. prevalence estimates for hemophilia exist because of the difficulty identifying cases among persons who receive care from various types of health care providers, two previous state-based studies estimated hemophilia prevalence at 13.4 and 19.4 per 100,000 males. […] Surveillance for hemophilia, which is a complex, chronic condition, is challenging because of its low prevalence, the difficulty in ascertaining cases uniformly, and the challenges in routinely characterizing and tracking associated health complications.
#1 Hemophilia – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK551607/
Hemophilia is equally distributed among all ethnic groups worldwide. The estimated frequency of hemophilia is around 1 in 10000 live births, and the number of people worldwide living with hemophilia is about 400000. […] Hemophilia A is more prevalent (80% to 85% of the total hemophilia population) than hemophilia B. It presents in 1 in 5000 live male births, whereas hemophilia B presents in 1 in 30000 live male births. Due to its X-linked inheritance pattern, geographical areas with a higher frequency of consanguineous marriages, like Egypt, have a higher prevalence of the disease. Hemophilia C generally occurs in 1 of every 100000 people. However, Ashkenazi Jews have a higher incidence of factor XI deficiency, which is around 8%. With new advances in early diagnoses and treatment therapies, affected individuals should expect a normal life expectancy.
#1 WFH Has Spearheaded a Scientific Study Updating the Prevalence of Hemophilia to Higher Numbers than Previously Estimated > Publications > Hemophilia of Georgia
https://www.hog.org/publications/detail/wfh-has-spearheaded-a-scientific-study-updating-the-prevalence-of-hemophilia-to-higher-numbers-than-previously-estimated
WFH has spearheaded a scientific study updating the prevalence of hemophilia to higher numbers than previously estimated and providing, for the first time, estimates of the prevalence of hemophilia at birth. […] The authors conducted a meta-analysis of registry data in countries with comprehensive registries (Australia, Canada, France, Italy, New Zealand, and the United Kingdom) and found that the prevalence of hemophilia is higher than previously estimated. […] The authors report a prevalence, per 100,000 males, of 17 for all severities of hemophilia A, six for severe hemophilia A, four for all severities of hemophilia B, and one for severe hemophilia B. […] For the first time, the prevalence at birth of hemophilia, defined as the number of people born with hemophilia per 100,000 male births, was estimated.
#1 Data and Statistics on Hemophilia | Hemophilia | CDC
https://www.cdc.gov/hemophilia/data-research/index.html
As many as 33,000 males are estimated to be living with hemophilia in the United States. […] The exact number of people living with hemophilia in the United States is not known. A CDC study that used data collected on patients receiving care in federally funded hemophilia treatment centers during the period 2012-2018 estimated that as many as 33,000 males in the United States are living with the disorder. […] A CDC-sponsored randomized clinical trial found that children who were treated on a regular basis to prevent bleeding (prophylactic care) had less evidence of joint damage by 6 years of age than did those who were treated only after a bleed had started (episodic care). […] A 6-year study of patients in 17 US hemophilia treatment centers found that all patients with hemophilia can be at risk for an inhibitor and regular screening for an inhibitor is important. […] A CDC study evaluated the prevalence of health conditions in more than 2,200 men with hemophilia who were aged 45 years or older in 2013 to 2021.
#1 Hemophilia A Overview: Symptoms, Genetics, Treatments | NBDF
https://www.bleeding.org/bleeding-disorders-a-z/types/hemophilia-a
According to the US Centers for Disease Control and Prevention (CDC), hemophilia occurs in approximately 1 in 5,617 live male births. There are between 30,000 33,000 males with hemophilia in the US*. […] More than half of people diagnosed with hemophilia A have the severe form. […] The best place for patients with hemophilia to be diagnosed and treated is at one of the federally funded hemophilia treatment centers (HTCs) that are spread throughout the country. HTCs provide comprehensive care from skilled hematologists and other professional staff, including nurses, physical therapists, social workers and sometimes dentists, dieticians and other healthcare providers, including specialized labs for more accurate lab testing. […] „Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres,” Soucie et al
#1 United States Hemophilia Occurrence Rate Higher Than Previously Measured – Hematology Advisor
https://www.hematologyadvisor.com/news/rise-in-occurrence-rate-of-hemophilia-in-us/
Occurrence rates of hemophilia in the United States (US) are higher than what was previously reported in a population-based study conducted more than 20 years ago, according to a report published in Haemophilia. […] The exact number of hemophilia cases are unknown and estimates of the size and characteristics of the US hemophilia population are needed for healthcare planning and resource needs assessments. […] John Michael Soucie, PhD, of the division of blood disorders at the Centers for Disease Control and Prevention in Atlanta, Georgia, and associates, used the hemophilia treatment center (HTC) network to determine the incidence and prevalence of hemophilia among men in the United States. […] The age-adjusted prevalence for both types of hemophilia was 15.7 cases per 100,000 men (12.0 for hemophilia A and 3.7 for hemophilia B).
#1 United States Hemophilia Occurrence Rate Higher Than Previously Measured – Hematology Advisor
https://www.hematologyadvisor.com/news/rise-in-occurrence-rate-of-hemophilia-in-us/
Based on the 9587 individuals with hemophilia born during the period index, the average hemophilia incidence was 1 case per 4334 live male births. […] The researchers calculated that 29,761 to 32,985 men currently living in the United States have hemophilia, and that the majority of these men receive comprehensive care in specialized clinical centers. […] The study had several limitations. First, not all men with hemophilia receive care in the federally supported HTC network covered by the surveillance. […] The authors concluded that longer acting and more effective treatment products as well as successful gene therapy will lead to decreased bleeding and other complications and may require less frequent follow-up care.
#1 Hemophilia | American Society for Clinical Laboratory Science
https://clsjournal.ascls.org/content/32/1/21
Hemophilia is a rare, congenital bleeding disease with an X-linked recessive inheritance pattern. It is characterized by absent, decreased, or dysfunctional coagulation factor VIII (FVIII) or factor IX (FIX). Individuals with severe hemophilia bleed into the joints, soft tissue, and muscles, which can be debilitating. […] The prevalence of congenital hemophilia A (HA) is 1 in 5,000 live male births and for hemophilia B (HB) it is 1 in 30,000 live male births. The true prevalence may actually be a little higher owing to milder forms of the disease not being diagnosed in many parts of the world. […] According to the National Hemophilia Foundation, the percentage breakdown of overall hemophilia population by severity is 60%, 15%, and 25% for severe, moderate, and mild deficiencies. […] A prolonged aPTT with a normal PT is the classic finding in the clinical laboratory among patients with hemophilia. The prolongation of the aPTT is directly related to the factor activity levels of FVIII and FIX in the patient.
#1 Hemophilia B (Factor IX Deficiency): Background, Pathophysiology, Etiology
https://emedicine.medscape.com/article/779434-overview
Hemophilia has a worldwide distribution. The incidence of hemophilia B is estimated to be approximately 1 case per 25,000-30,000 male births. The prevalence of hemophilia B is 5.3 cases per 100,000 male individuals, with 44% of those having severe disease. […] Hemophilia B is much less common than hemophilia A. Of all case of hemophilia, 80-85% are hemophilia A, 14% are hemophilia B, and the remainder are various other clotting abnormalities. […] Hemophilia B occurs in all races and ethnic groups. In general, the demographics of hemophilia follow the racial distribution in a given population; for example, rates of hemophilia among Whites, Blacks, and Hispanic males in the United States are similar. […] Because hemophilia is an X-linked, recessive condition, it occurs predominantly in males. Females usually are asymptomatic carriers. However, carriers may have mild hemophilia. In one study, five of 55 patients with mild hemophilia (factor IX levels 5-50%) were girls. Females may have clinical bleeding due to hemophilia if one of the following conditions is present: Extreme lyonization (ie, inactivation of the normal factor IX allele in one of the X chromosomes), Homozygosity for the hemophilia gene (ie, father with hemophilia and mother who is a carrier, two independent mutations, or some combination of inheritance and new mutations), Turner syndrome (XO) associated with the affected hemophilia gene.
#1 Hemophilia in Children | PM&R KnowledgeNow
https://now.aapmr.org/hemophilia-in-children/
Hemophilia occurs most commonly in patients with family history of hemophilia with male predominance (due to its X-linked recessive inheritance). The prevalence is an estimated 12-17.1 per 100,000 males for hemophilia A, and 3.7-3.8 per 100,000 for hemophilia B. In the U.S. average incidence for hemophilia A is 1 per 5,617 live male births while hemophilia B occurs 1 per 19,283 live male births. Approximately 30,000 to 33,000 males with hemophilia live in the US. […] For female carriers, approximately 30% have lower than 40% factor VIII or IX clotting activity and may have abnormal bleeding. […] Frequent infusions increase risk of infections and may also lead to development of antibodies to infused factors (factor inhibitors). Formation of factor inhibitors occurs in 30-35% of patients with severe hemophilia A, and 5-15% of patients with severe hemophilia B.
#1 Hemophilia – Hematology and Oncology – Merck Manual Professional Edition
https://www.merckmanuals.com/professional/hematology-and-oncology/coagulation-disorders/hemophilia
Hemophilias are common hereditary bleeding disorders caused by deficiencies of either clotting factor VIII or IX. […] Hemophilia A (factor VIII deficiency), which affects about 80% of patients with hemophilia, and hemophilia B (factor IX deficiency) have identical clinical manifestations and screening test abnormalities. Both are X-linked genetic disorders. Specific factor assays are required to distinguish the two. […] Sporadic cases of hemophilia A and B (where the female parent is not a carrier) are not unusual. In one study, 55% of patients with severe hemophilia A and 43% of patients with severe hemophilia B were sporadic cases. In mild and moderate hemophilia A and B, 30% of cases were sporadic. […] Hemophilia is suspected in patients with recurrent bleeding, unexplained hemarthroses, or a prolongation of the PTT. If hemophilia is suspected, PTT, PT, platelet count, and factor VIII and IX assays are obtained. In hemophilia, the PTT is prolonged, but the PT and platelet count are normal. […] About 30% of patients with severe hemophilia A who require repeated factor VIII infusions develop antibodies to factor VIII.
#1 Hemophilia in the Managed Care Setting
https://www.ajmc.com/view/ace0024_mar15_hemophilia_dalton
Disease severity, which is categorized by factor levels (severe: 1%; moderate: 1%-5%; mild: 5%), has a strong influence on the cost of hemophilia care. […] Indirect costs also contribute a large economic burden and include individuals and caregivers lost productivity, caregivers unpaid costs, and individuals hemophilia-related disability. […] Treating people who develop inhibitors is complex and ranks as one of the biggest challenges in hemophilia care today. […] The cost of care for patients with high titers of inhibitors is routinely higher than that for noninhibitor patients. […] Long-term complications can contribute substantially to the overall burden of hemophilia. […] Although it is a relatively uncommon disorder, hemophilia and its complications are associated with substantial morbidity for those affected.
#1 Current Challenges in the Management of Hemophilia
https://www.ajmc.com/view/ace0024_mar15_hemophilia_bauer
Hemophilia affects an estimated 20,000 individuals in the United States. […] The diagnosis and management of patients with severe hemophilia is complex, and requires preventive treatment (prophylaxis) to avoid bleeding episodes and related complications and the use of replacement therapy with coagulation factors during acute bleeding episodes. […] Hemophilia affects an estimated 20,000 individuals in the United States, with hemophilia A accounting for approximately 80% of cases. […] Most of the cost in caring for hemophilia is incurred by patients with severe disease, who comprise half of all patients. […] The diagnosis and management of patients with severe hemophilia are complex. Preventive treatment (prophylaxis) is required to avoid bleeding episodes and related complications, and use of replacement therapy with coagulation factors is needed during acute bleeding episodes.
#1 Hemophilia Epidemiology Forecast 2034
https://www.expertmarketresearch.com/epidemiology-reports/hemophilia-epidemiology-forecast
According to the Centers for Disease Control and Prevention (CDC), about 33,000 males are living with hemophilia in the United States. Hemophilia A is estimated to be 3 to 4 times more common compared to hemophilia B. Additionally, the severe form of this bleeding disorder is present in 4 out of 10 male patients. Hemophilia epidemiology forecast suggests that the disease burden of hemophilia is expected to grow steadily over time, primarily due to improved diagnosis, increased life expectancy, and broader access to treatment. […] Expert Market Research’s Hemophilia Epidemiology Forecast Report 2025-2034 offers comprehensive information on the prevalence and demographics of hemophilia. It projects the future incidence and prevalence rates of hemophilia cases across various populations. The study covers age and type as major determinants of the hemophilia population. The report highlights patterns in the prevalence of hemophilia over time and projects future trends based on multiple variables.
#1 Evaluation of CDCâs Hemophilia Surveillance Program â Universal Data Collection (1998â2011) and Community Counts (2011â2019), United States | MMWR
https://www.cdc.gov/mmwr/volumes/69/ss/ss6905a1.htm
Hemophilia is an X-linked genetic disorder that primarily affects males and results in deficiencies in blood-clotting proteins. Approximately one in 5,000 males are born with hemophilia, and hemophilia A is about four times as common as hemophilia B. Although no precise national U.S. prevalence estimates for hemophilia exist because of the difficulty identifying cases among persons who receive care from various types of health care providers, two previous state-based studies estimated hemophilia prevalence at 13.4 and 19.4 per 100,000 males. In addition, these studies showed that 67% and 82% of persons with hemophilia received care in a federally funded hemophilia treatment center (HTC), and 86% and 94% of those with the most severe cases of hemophilia received care in a federally funded HTC. As of January 2020, the United States had 144 HTCs.
#1 Community Counts: Understanding hemophilia and other bleeding disorders through public health surveillance | Professional Education
https://profedu.blood.ca/en/community-counts-understanding-hemophilia-and-other-bleeding-disorders-through-public-health
Over the past 20 years, the Centers for Disease Control and Prevention (CDC) has conducted public health surveillance to better understand the characteristics and complications that impact the bleeding disorders population. Community Counts is a public health surveillance program that gathers and shares information about common health issues, medical complications, and causes of death that affect people with bleeding disorders cared for in U.S. Hemophilia Treatment Centers (HTCs). […] They will present key findings on the occurrence of bleeding disorders, and information collected to date on population demographics, clinical characteristics, and other health indicators. […] Describe the use of public health surveillance to better understand and improve the health of people with bleeding disorders. […] Describe key findings from Community Counts.
#1 Evaluation of CDCâs Hemophilia Surveillance Program â Universal Data Collection (1998â2011) and Community Counts (2011â2019), United States | MMWR
https://www.cdc.gov/mmwr/volumes/69/ss/ss6905a1.htm
Surveillance for hemophilia, which is a complex, chronic condition, is challenging because of its low prevalence, the difficulty in ascertaining cases uniformly, and the challenges in routinely characterizing and tracking associated health complications. Over time, two systems involving many stakeholders have been used to conduct ongoing hemophilia surveillance. During 1998-2011, CDC and the HTCs collaborated to establish the Universal Data Collection (UDC) surveillance system. The purposes of the UDC surveillance system were to monitor human immunodeficiency virus (HIV) and bloodborne viral hepatitis in persons with hemophilia, thereby tracking blood safety, and to track the prevalence of and trends in complications associated with hemophilia. […] In 2011, the UDC surveillance system was replaced by a new hemophilia surveillance system called Community Counts. CDC and the HTCs established Community Counts to expand laboratory testing and the collection of clinical data to better identify and track emerging health issues in persons with hemophilia.
#1 Community Counts : CDC Public Health Surveillance for Bleeding Disorders | Comprehensive Hemophilia Treatment Center
https://hemophilia.weill.cornell.edu/research/clinical-studies/community-counts-cdc-public-health-surveillance-bleeding-disorders
Community Counts is a public health monitoring program funded by CDCs Division of Blood Disorders. The purpose of this project is to gather and share information about common health issues, medical complications, and causes of death that affect people with bleeding disorders cared for in U.S. Hemophilia Treatment Centers (HTCs). […] Community Counts aims to continue the work of the Universal Data Collection System, which ended in 2011. […] Community Counts is led by the Division of Blood Disorders along with its partners, the American Thrombosis and Hemostasis Network (ATHN) and the U.S. Hemophilia Treatment Center Network (USHTCN).
#1 Community Counts Registry for Bleeding Disorders Surveillance (Community Counts Registry) – Healthy People 2030 | odphp.health.gov
https://odphp.health.gov/healthypeople/objectives-and-data/data-sources-and-methods/data-sources/community-counts-registry-bleeding-disorders-surveillance-community-counts-registry
Conducted through a cooperative agreement, Community Counts Registry is a national surveillance project for inherited bleeding disorders in the United States led by the Centers for Disease Control and Prevention (CDC), along with its partners, the American Thrombosis and Hemostasis Network (ATHN) and the U.S. Hemophilia Treatment Center Network (USHTCN). […] The Registry gathers detailed information on patients who have been seen at federally-funded Hemophilia Treatment Centers (HTCs) since December 2013 and who have given authorization to share their data. […] The Registry collects information on patient characteristics, diagnoses, bleeding events (including bleeding into joints and/or brain), history of inhibitors, treatments (including preventive measures), treatment product use, and the presence of other medical conditions.
#1 Community Counts | ATHN
https://athn.org/what-we-do/national-projects/community-counts.html
Community Counts: CDC Public Health Surveillance Project For Bleeding Disorders. The Community Counts project is gathering data to learn more about patients with bleeding and clotting disorders at hemophilia treatment centers (HTCs) nationwide. The goal is to increase knowledge of inhibitors and other complications, reduce and prevent them from happening, and ultimately improve the quality of life of people with bleeding disorders. […] Led by ATHN in partnership with the U.S. Hemophilia Treatment Center Network and the Centers for Disease Control and Prevention (CDC), Community Counts is happening at over 140 HTCs nationwide and includes more than 142,000 patients. […] Registry for Bleeding Disorders Surveillance is collecting detailed clinical information to monitor trends, identify risk factors and rates of complications, and identify high-risk populations for prevention programs.
#1 Community Counts | ATHN
https://athn.org/what-we-do/national-projects/community-counts.html
As part of Community Counts, blood specimens from individuals participating in the Registry for Bleeding Disorders Surveillance are tested in a central laboratory to learn more about inhibitors and infectious diseases like hepatitis C and HIV. The Registry data, together with the specimen testing results, will allow the tracking of trends in inhibitor development and monitor other outcomes such as adoption of prophylaxis, rates of joint bleeding, joint and other surgeries, adoption of new products, morbidities in women with bleeding disorders, and many other outcomes.
#1 EUHASS – European Haemophilia Safety Surveillance
https://web.euhass.org/
EUHASS is a pharmacovigilance program to monitor the safety of treatments for people with inherited bleeding disorders in Europe. Haemophilia treatment centres report adverse events directly to the EUHASS website and regular surveillance reports are produced.
#1 CHESS – AHCDC
https://www.ahcdc.ca/chess
Hemophilia and other inherited bleeding disorders are rare illnesses. Adverse events related to treatment, such as the development of antibodies to clotting factor concentrate inhibitors, are also rare events. Therefore, it is necessary to follow up with a large number of patients in order to precisely define the relative risk of developing these complications after treatment with the different products. […] The European Haemophilia Safety Surveillance system (EUHASS) has been designed to do just this creating a prospective adverse event reporting system for Europe. CHESS is implementing a surveillance scheme in Canada that is compatible with EUHASS and the Canadian Health Registry (CHR)/ Canadian Hemophilia Assessment and Resource Management information System (CHARMS). […] To monitor the safety of treatments for people with haemophilia in Canada.
#1 CHESS – AHCDC
https://www.ahcdc.ca/chess
To support improvements in patient safety for those with hemophilia (and, ideally, other inherited bleeding disorders) by creating a Canadian network for the monitoring and communication of health information and treatment safety data. […] CHESS is structured as a prospective web-based adverse reporting system with the minimum possible impact on the routine of hemophilia centres. […] At the end of each complete year of surveillance, population data (i.e. data on the number of patients registered with participating centres and the clotting factor concentrates used to treat them) will be imported from CHR/CHARMS after approval and review by the Hemophilia Clinic Director. […] CHESS has been endorsed by the Association of Canadian Hemophilia Directors of Canada (AHCDC) and has been given ethics approval in Hamilton and Kingston (to date).
#1
https://haematologica.org/article/view/9931
Acquired hemophilia A (AHA) is a rare disorder, affecting men and women of all ages. Two peaks in AHA incidence are typically observed; one associated with pregnancy, and another with older age (60 years old). […] In 2009, Huth-Khne et al. published international recommendations for AHA. Since then, other guidance has also been published. These documents are recognized as important sources of guidance for hematologists and other specialists. […] Data from several AHA registries have since been published, including the EACH2 (European ACquired Haemophilia), SACHA (Surveillance des Auto-antiCorps au cours de l’Hmophilie Acquise) and GTH (Gesellschaft fr Thrombose- und Hmostaseforschung) registries in Europe, as well as the HTRS (Hemostasis and Thrombosis Research Society) registry in the USA.
#1 Evaluation of CDCâs Hemophilia Surveillance Program â Universal Data Collection (1998â2011) and Community Counts (2011â2019), United States | MMWR
https://www.cdc.gov/mmwr/volumes/69/ss/ss6905a1.htm
This report is the first comprehensive summary of CDCs hemophilia surveillance program, which comprises both UDC and Community Counts. Data generated from these surveillance systems have been used in the development of public health and clinical guidelines and practices to improve the safety of U.S. blood products and either prevent hemophilia-related complications or identify complications early. […] CDC has successfully developed, implemented, and maintained a surveillance system for hemophilia. The program can serve as an example of how to conduct surveillance for a complex chronic disease by involving stakeholders, improving and building new infrastructure, expanding data collection, providing testing guidance, establishing a registry with specimen collection, and integrating laboratory findings in clinical practice for the individual patient. […] Through monitoring data from Community Counts, CDC will continue to characterize the benefits and adverse events associated with existing or new hemophilia treatment products, thereby contributing to maximizing the health and longevity of persons with hemophilia.
#1 Adult Hemophilia Treatment Center
https://web2.augusta.edu/mcg/medicine/hemonc/hemophilia/
A Centers for Disease Control and Prevention (CDC) study found that the rate of hospital stays for bleeding-related events among patients seen in HTCs was 40% lower than the rates for patients seen in other care facilities. […] Patients seen in HTCs are 40% less likely than those seen elsewhere to die of a hemophilia-related complication.
#1 Community Counts Registry for Bleeding Disorders Surveillance (Community Counts Registry) – Healthy People 2030 | odphp.health.gov
https://odphp.health.gov/healthypeople/objectives-and-data/data-sources-and-methods/data-sources/community-counts-registry-bleeding-disorders-surveillance-community-counts-registry
The national HTCs treat over 35,000 persons with inherited bleeding disorders, estimated to be 80 percent of the entire population of persons with bleeding disorders. […] The Registry collects information on patient characteristics, diagnoses, bleeding events (including bleeding into joints and/or brain), history of inhibitors, treatments (including preventive measures), treatment product use, and the presence of other medical conditions. […] Interpretation Issues This data source collects information only on patients seen at the HTCs (estimated at 70 percent of persons with hemophilia) and cannot be generalized to those not seen at the HTCs.
#1 Hemophilia in Children | PM&R KnowledgeNow
https://now.aapmr.org/hemophilia-in-children/
Children with recurrent hemarthrosis are at high risk of developing severe arthropathy and joint contractures later in life. […] Patients are encouraged to seek care at an HTC as it decreases the likelihood of dying from a hemophilia-related complication by 40%. […] Although several protocols exist for factor therapy prophylaxis, there are still gaps in the evidence-based knowledge regarding the patient selection, dosage and duration of treatment. Recommendations for prophylaxis should still be tailored to each individual case.
#1 Hemophilia in the Managed Care Setting
https://www.ajmc.com/view/ace0024_mar15_hemophilia_dalton
The choice of treatment approach (prophylaxis or on-demand treatment) can affect cost in the short term and long term. […] Prophylaxis has been recognized as the standard of care for the treatment of patients with severe hemophilia, and should be initiated at an early age. […] Working with HTCs allows patients to receive annual comprehensive care assessments and have treatment recommendations transmitted to their primary physician, ensuring continuity of care. […] Approximately 70% of patients with hemophilia in the United States receive care through HTCs. […] The escalating cost of hemophilia treatments is a potential barrier to patient access. […] Key considerations identified for Medicaid health plans to anticipate the needs of members with hemophilia are treatment access and quality, care management, cost management, pharmacy management, risk selection, and patient involvement.
#1 Hemophilia in the Managed Care Setting
https://www.ajmc.com/view/ace0024_mar15_hemophilia_dalton
Hemophilia A and B are chronic inherited bleeding disorders that together rank as one of the most expensive chronic diseases in the United States. […] Despite its relatively low incidence, hemophilia is associated with high aggregate costs. […] Advances in hemophilia care have resulted in longer survival and a growing patient population, as well as greater complexity in management of the disorder and rising costs of treatment. […] Hemophilia is a condition that requires lifetime treatment and is associated with substantial direct, indirect, and total costs of care. […] The mainstay of hemophilia care is lifetime treatment with factor replacement therapy, which is used both for prophylaxis and on-demand therapy. […] The financial impact of inpatient hospitalization for hemophilia care can be significant.
#1
https://haematologica.org/article/view/haematol.2022.282407
With the striking advances in hemophilia care that have materialized particularly in the last two decades, an increasing number of persons with hemophilia (PWH) have achieved a quality of life and life expectancy very close to that of unaffected individuals. […] As a result, hematologists are now confronted with a growing population of older PWH who develop age-related diseases, including cardiovascular disease (CVD), malignancies, and renal diseases. […] Although hemophilia has been postulated to protect against the development of CVD due to the underlying hypocoagulability, the precise incidence of cardiovascular diseases in PWH is not known. […] While a number of studies have documented that PWH have a lower mortality from CAD than the age-matched male population, more recent data indicate that prevalence of CAD in PWH increases with age.
#1 Hemophilia | American Society for Clinical Laboratory Science
https://clsjournal.ascls.org/content/32/1/21
The development of inhibitors is a serious iatrogenic complication associated with hemophilia treatment. Inhibitors are specific antibodies (IgG) that develop against coagulation FVIII or FIX preparations used in therapy. The development of inhibitors is more commonly seen in HA (25%-30% of patients) compared to HB (3%-5% of patients). […] Patients who present with bleeding should be treated promptly to avoid severe complications. In addition to being treated for bleeding, these patients should be treated for additional health and psychosocial needs. A hemophilia treatment center (HTC) offers a multidisciplinary approach that takes into consideration various life stages of the patient. […] It has been reported that patients using an HTC are 40% less likely to die of a hemophilia-related complications and are less likely to be hospitalized for bleeding complications.
#1 Hemophilia: Epidemiology Forecast to 2028 – Research and Markets
https://www.researchandmarkets.com/reports/4829190/hemophilia-epidemiology-forecast-to-2028?srsltid=AfmBOop53z9P3X9K-N3MAq3XwysKVN6B6YzflRXlHEcdLToKaVRc6OiR
Hemophilia is a rare, genetic, potentially life-threatening bleeding disorder. The diagnosed prevalent cases of hemophilia in the US are likely to exceed that of China over the next decade, with 18,723 cases in the US in 2028 as compared to 14,186 cases in China in 2028, due to higher hemophilia knowledge in the US as compared to China. […] Diagnosed prevalent cases of Hemophilia A and Hemophilia B is forecasts to increase across the eight major markets (US, France, Germany, Italy, Spain, UK, Japan, and China), from 67,051 cases in 2018 and 67,678 cases in 2028, at an Annual Growth Rate (AGR) of 0.09%. […] Epidemiologists forecast an increase in the diagnosed prevalent cases of acquired hemophilia from 2,163 diagnosed prevalent cases in 2018 to 2,215 diagnosed prevalent cases in 2028, with an AGR of 0.24% during the forecast period.
#1 Global Hemophilia A Market to 2030 – Insights, Epidemiology and Forecast – ResearchAndMarkets.com
https://www.businesswire.com/news/home/20210311005677/en/Global-Hemophilia-A-Market-to-2030—Insights-Epidemiology-and-Forecast—ResearchAndMarkets.com
This report delivers an in-depth understanding of the Hemophilia A, historical and forecasted epidemiology as well as the Hemophilia A market trends in the United States, EU5 (Germany, France, Italy, Spain, and United Kingdom), and Japan. […] The disease epidemiology covered in the report provides historical as well as forecasted Hemophilia A epidemiology [segmented as Total diagnosed Prevalent Pool of Hemophilia A, Severity-specific diagnosed Prevalent Pool of Hemophilia A, Inhibitor-specific Prevalent Pool of Hemophilia A and Total Treated Cases of Hemophilia A] scenario of Hemophilia A in the 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and United Kingdom), and Japan from 2018 to 2030. […] In the United States, the total number of prevalent cases of Hemophilia A was 14,630 cases in the year 2020 which are expected to grow during the study period, i.e., 2018-2030.
#1 Global Hemophilia A Market to 2030 – Insights, Epidemiology and Forecast – ResearchAndMarkets.com
https://www.businesswire.com/news/home/20210311005677/en/Global-Hemophilia-A-Market-to-2030—Insights-Epidemiology-and-Forecast—ResearchAndMarkets.com
In the year 2020, the total prevalent cases of Hemophilia A were 23,284 cases in EU-5 which are expected to grow during the study period, i.e., 2018-2030. […] In Japan, the total number of prevalent cases of Hemophilia A was 5,329 cases in the year 2020 which are expected to grow during the study period, i.e., 2018-2030. […] In the 7MM, approximately 30% of severe hemophilia A cases develop inhibitors, i.e., 6,422 patients with inhibitors in 2020. In addition to this, 70% of the Hemophilia A cases were observed without inhibitors. The number of cases for both categories will increase during the study period.
#1
https://haematologica.org/article/view/haematol.2022.282407
All in all, evidence from the literature indicates that the prevalence of CVD in PWH is at least equal to that of their peers without hemophilia. […] Evidence-based recommendations on how to handle CVD in PWH are lacking due to the absence of clinical trials. […] The balance between bleeding and thrombosis is indeed particularly delicate in PWH, thereby representing a major challenge when these patients develop CVD. […] Both stable angina and acute coronary syndrome, the main types of CAD, can occur in PWH and need the same therapeutic approach as people without hemophilia. […] However, the management of CAD is challenging because standard treatment requires antiplatelet and anticoagulant drugs, such invasive procedures as percutaneous coronary intervention (PCI), the use of bare metal stents (BMS), drug-eluting stents (DES) or even cardiac surgery with coronary artery bypass graft (CABG).
#1
https://haematologica.org/article/view/haematol.2022.282407
Atrial fibrillation is a leading cause of cardioembolic stroke and is a very common CVD in the aging population. […] Thus, the frequency of this arrythmia is continuously increasing in PWH, because they are not naturally protected from AF nor from the ensuing thromboembolic complications. […] In summary, the CHA2DS2-VASc score and patient residual coagulation factor levels should first be taken into account when considering the indication for oral anticoagulation in PWH with AF, although several grey areas still persist.
#1 WFH Has Spearheaded a Scientific Study Updating the Prevalence of Hemophilia to Higher Numbers than Previously Estimated > Publications > Hemophilia of Georgia
https://www.hog.org/publications/detail/wfh-has-spearheaded-a-scientific-study-updating-the-prevalence-of-hemophilia-to-higher-numbers-than-previously-estimated
This translates to approximately 1.13 million males with hemophilia worldwide, of whom about 418,000 have severe hemophilia, the majority of whom are undiagnosed. […] The gap in life expectancy for patients with hemophilia is considerably worse in lower-income countries, where lack of treatment has affected the hemophilia population, and resulted in life expectancy disadvantages of approximately 64 percent, 77 percent, and 93 percent for countries with upper-middle, lower-middle, and low incomes, respectively, according to World Bank definitions.
#1 Hemophilia in the Managed Care Setting
https://www.ajmc.com/view/ace0024_mar15_hemophilia_dalton
Additional research and education are needed to understand the effects of health insurance on hemophilia care and expenditures, to evaluate treatment strategies, and to implement strategies to improve outcomes and reduce costs of care. […] Utilization management programs can be used to help ensure the optimal use of clotting factor and supplies. […] It is critical to tailor treatment and management protocols to manage hemophilia cases effectively.
#2 Hemophilia – StatPearls – NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/NBK551607/
Hemophilia is equally distributed among all ethnic groups worldwide. The estimated frequency of hemophilia is around 1 in 10000 live births, and the number of people worldwide living with hemophilia is about 400000. […] Hemophilia A is more prevalent (80% to 85% of the total hemophilia population) than hemophilia B. It presents in 1 in 5000 live male births, whereas hemophilia B presents in 1 in 30000 live male births. Due to its X-linked inheritance pattern, geographical areas with a higher frequency of consanguineous marriages, like Egypt, have a higher prevalence of the disease. Hemophilia C generally occurs in 1 of every 100000 people. However, Ashkenazi Jews have a higher incidence of factor XI deficiency, which is around 8%. With new advances in early diagnoses and treatment therapies, affected individuals should expect a normal life expectancy.
#2 Orphanet: Hemophilia
https://www.orpha.net/en/disease/detail/448
A rare hematological disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. […] Prevalence in the general population is estimated at 1/12,000. Prevalence at birth is estimated at 1/5,000 in males. […] Inheritance is X-linked recessive and genetic counseling is recommended for affected families. […] Management is provided by multidisciplinary comprehensive hemophilia care centers. […] Left untreated, the disease course is severe and, in severe hemophilia, is generally fatal.
#2 WFH Has Spearheaded a Scientific Study Updating the Prevalence of Hemophilia to Higher Numbers than Previously Estimated > Publications > Hemophilia of Georgia
https://www.hog.org/publications/detail/wfh-has-spearheaded-a-scientific-study-updating-the-prevalence-of-hemophilia-to-higher-numbers-than-previously-estimated
This translates to approximately 1.13 million males with hemophilia worldwide, of whom about 418,000 have severe hemophilia, the majority of whom are undiagnosed. […] The gap in life expectancy for patients with hemophilia is considerably worse in lower-income countries, where lack of treatment has affected the hemophilia population, and resulted in life expectancy disadvantages of approximately 64 percent, 77 percent, and 93 percent for countries with upper-middle, lower-middle, and low incomes, respectively, according to World Bank definitions.
#2 Hemophilia A Overview: Symptoms, Genetics, Treatments | NBDF
https://www.bleeding.org/bleeding-disorders-a-z/types/hemophilia-a
According to the US Centers for Disease Control and Prevention (CDC), hemophilia occurs in approximately 1 in 5,617 live male births. There are between 30,000 33,000 males with hemophilia in the US*. […] More than half of people diagnosed with hemophilia A have the severe form. […] The best place for patients with hemophilia to be diagnosed and treated is at one of the federally funded hemophilia treatment centers (HTCs) that are spread throughout the country. HTCs provide comprehensive care from skilled hematologists and other professional staff, including nurses, physical therapists, social workers and sometimes dentists, dieticians and other healthcare providers, including specialized labs for more accurate lab testing. […] „Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres,” Soucie et al
#2 Hemophilia B (Factor IX Deficiency): Background, Pathophysiology, Etiology
https://emedicine.medscape.com/article/779434-overview
Hemophilia has a worldwide distribution. The incidence of hemophilia B is estimated to be approximately 1 case per 25,000-30,000 male births. The prevalence of hemophilia B is 5.3 cases per 100,000 male individuals, with 44% of those having severe disease. […] Hemophilia B is much less common than hemophilia A. Of all case of hemophilia, 80-85% are hemophilia A, 14% are hemophilia B, and the remainder are various other clotting abnormalities. […] Hemophilia B occurs in all races and ethnic groups. In general, the demographics of hemophilia follow the racial distribution in a given population; for example, rates of hemophilia among Whites, Blacks, and Hispanic males in the United States are similar. […] Because hemophilia is an X-linked, recessive condition, it occurs predominantly in males. Females usually are asymptomatic carriers. However, carriers may have mild hemophilia. In one study, five of 55 patients with mild hemophilia (factor IX levels 5-50%) were girls. Females may have clinical bleeding due to hemophilia if one of the following conditions is present: Extreme lyonization (ie, inactivation of the normal factor IX allele in one of the X chromosomes), Homozygosity for the hemophilia gene (ie, father with hemophilia and mother who is a carrier, two independent mutations, or some combination of inheritance and new mutations), Turner syndrome (XO) associated with the affected hemophilia gene.
#2 Hemophilia B | The Washington Manual of Medical Therapeutics
https://www.unboundmedicine.com/washingtonmanual/view/Washington-Manual-of-Medical-Therapeutics/602219/all/Hemophilia_B?q=Diagnosis
Hemophilia B affects 1 in 30,000 male births.
#2 Hemophilia C: Practice Essentials, Etiology, Epidemiology
https://emedicine.medscape.com/article/955690-overview
Hemophilia C (major form) occurs with an estimated prevalence of 1 case per 100,000 population in the United States, a rate that makes hemophilia A 10 times more common than hemophilia C. […] Internationally, deficiency of factor XI is reported in most racial groups, with the highest frequency in persons of Ashkenazi or Iraqi Jewish descent; in Israel, the estimated rate for heterozygosity is 8%. […] In the United Kingdom national database, 1696 patients (many of whom were non-Jewish) with factor XI deficiency were registered in a population of about 60 million (data for 2006), but most of these have partial deficiency; factor XI deficiency is more common than factor IX deficiency (hemophilia B). […] Hemophilia C equally affects males and females. Moreover, people of any age group can be affected. Note that normal infants younger than age 6 months have low levels of factor XI because of the time required for factor XI to reach normal levels observed in adults. After this is reached, factor XI levels do not change with age.
#2 Evaluation of CDC’s Hemophilia Surveillance Program – Universal Data Collection (1998-2011) and Community Counts (2011-2019), United States – PubMed
https://pubmed.ncbi.nlm.nih.gov/32881847/
Hemophilia is an X-linked genetic disorder that primarily affects males and results in deficiencies in blood-clotting proteins. Hemophilia A is a deficiency in factor VIII, and hemophilia B is a deficiency in factor IX. Approximately one in 5,000 males are born with hemophilia, and hemophilia A is about four times as common as hemophilia B. […] Although no precise national U.S. prevalence estimates for hemophilia exist because of the difficulty identifying cases among persons who receive care from various types of health care providers, two previous state-based studies estimated hemophilia prevalence at 13.4 and 19.4 per 100,000 males. […] Surveillance for hemophilia, which is a complex, chronic condition, is challenging because of its low prevalence, the difficulty in ascertaining cases uniformly, and the challenges in routinely characterizing and tracking associated health complications.
#2 Community Counts : CDC Public Health Surveillance for Bleeding Disorders | Comprehensive Hemophilia Treatment Center
https://hemophilia.weill.cornell.edu/research/clinical-studies/community-counts-cdc-public-health-surveillance-bleeding-disorders
Community Counts is a public health monitoring program funded by CDCs Division of Blood Disorders. The purpose of this project is to gather and share information about common health issues, medical complications, and causes of death that affect people with bleeding disorders cared for in U.S. Hemophilia Treatment Centers (HTCs). […] Community Counts aims to continue the work of the Universal Data Collection System, which ended in 2011. […] Community Counts is led by the Division of Blood Disorders along with its partners, the American Thrombosis and Hemostasis Network (ATHN) and the U.S. Hemophilia Treatment Center Network (USHTCN).
#2 Reduce the proportion of people with severe hemophilia who have more than 4 joint bleeds each year â Data Methodology and Measurement – Healthy People 2030 | odphp.health.gov
https://odphp.health.gov/healthypeople/objectives-and-data/browse-objectives/blood-disorders/reduce-proportion-people-severe-hemophilia-who-have-more-4-joint-bleeds-each-year-bdbs-01/data-methodology
Data Source: Community Counts Registry for Bleeding Disorders Surveillance (Community Counts Registry), CDC/NCBDDD and ATHN. […] Baseline: 16.9 percent of persons with severe hemophilia had more than 4 joint bleeds in 2016. […] The Registry gathers detailed information on patients who have been seen at federally-funded hemophilia treatment centers (HTCs) since December 2013. […] The Registry collects information on patient characteristics, diagnoses, bleeding events (including bleeding into joints and/or brain), history of inhibitors, treatments (including preventive measures), treatment product use, and the presence of other medical conditions. […] Joint bleeds are self-reported incidents of bleeding into any joint.
#2 Hemophilia | American Society for Clinical Laboratory Science
https://clsjournal.ascls.org/content/32/1/21
The development of inhibitors is a serious iatrogenic complication associated with hemophilia treatment. Inhibitors are specific antibodies (IgG) that develop against coagulation FVIII or FIX preparations used in therapy. The development of inhibitors is more commonly seen in HA (25%-30% of patients) compared to HB (3%-5% of patients). […] Patients who present with bleeding should be treated promptly to avoid severe complications. In addition to being treated for bleeding, these patients should be treated for additional health and psychosocial needs. A hemophilia treatment center (HTC) offers a multidisciplinary approach that takes into consideration various life stages of the patient. […] It has been reported that patients using an HTC are 40% less likely to die of a hemophilia-related complications and are less likely to be hospitalized for bleeding complications.
#2 Evaluation of CDC’s Hemophilia Surveillance Program – Universal Data Collection (1998-2011) and Community Counts (2011-2019), United States – PubMed
https://pubmed.ncbi.nlm.nih.gov/32881847/
During 1998-2011, CDC and the HTCs collaborated to establish the Universal Data Collection (UDC) surveillance system. […] In 2011, the UDC surveillance system was replaced by a new hemophilia surveillance system called Community Counts. […] This report is the first comprehensive summary of CDC’s hemophilia surveillance program, which comprises both UDC and Community Counts. […] CDC has successfully developed, implemented, and maintained a surveillance system for hemophilia. […] Through monitoring data from Community Counts, CDC will continue to characterize the benefits and adverse events associated with existing or new hemophilia treatment products, thereby contributing to maximizing the health and longevity of persons with hemophilia.
#3 Hemophilia A and B – Epidemiology Forecast to 2030 – Market Research Reports & Consulting | GlobalData UK Ltd.
https://www.globaldata.com/store/report/hemophilia-a-and-b-epidemiology-analysis/
Hemophilia is an X-linked hereditary bleeding disorder characterized by impaired blood coagulation because of deficiencies in the production or function of coagulation factor VIII in hemophilia A or factor IX in hemophilia B (Bolton-Maggs and Pasi, 2003). […] According to the World Federation of Hemophilia (WFH), hemophilia is rare. About 1 in 10,000 people are born with hemophilia A and about 1 in 50,000 people are born with hemophilia B (WFH, 2013). […] In the 8MM, the diagnosed prevalent cases of hemophilia A and hemophilia B are expected to increase from 73,437 cases in 2020 to 82,128 cases in 2030, at an Annual Growth Rate (AGR) of 1.18%. […] GlobalData epidemiologists attribute the increase in the diagnosed prevalent cases of hemophilia A and hemophilia B to better diagnosis and population dynamics in each market.
#3
https://www.ajhponline.com/index.php/journal/article/view/85
Hemophilia affects normal blood clotting which is why bleeding is commonly reported in patients who live the disease. […] Estimating the number affected by hemophilia in the US is difficult. However, results from epidemiological studies and surveillance data estimate the total number to be between 30,000 to 33,000. […] The incidence rate of hemophilia is 1 in every 5000 male births. […] Addressing the disorder is important because the disease is associated with a significant burden. […] Several comorbidities are associated with hemophilia. […] Hemophilia is also associated with significant healthcare costs. […] Research has shown that the treatment strategies are effective in addressing hemophilia with lower risk of complications.