Epidemiology

The incidence of acquired AA is about 2 per million population per year in North America and Europe.[1][9] There is no sex imbalance. Patients can be affected at any age, although there is a biphasic age distribution with peaks from 10 to 25 years and >60 years.[10]

The incidence of AA is reported to be 2 to 3 times greater in East Asia than in North America and Europe.[11] Possible reasons include increased exposure to drugs, toxins, and viruses; higher incidence of inherited AA or genetic predisposition, such as polymorphisms of tumour necrosis factor-alpha, interferon-gamma, and drug detoxifying enzymes (GSTM1 and GSTT1); and regional variations in the diagnostic criteria and classification of AA and other bone marrow disorders (e.g., hypoplastic myelodysplastic syndrome).[3][12]

Congenital AA was previously considered rare, but an increasing number of patients with presumed acquired AA are now being diagnosed with germline mutations (e.g., inherited telomeropathies) with the use of next-generation sequencing.[5][13][14][15][16] 

One of the most common congenital causes is Fanconi anaemia.[17] Patients with congenital AA most commonly present in early childhood, but can sometimes present as young adults and occasionally in their 30s or 40s, and very rarely, in their 50s.

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