In 1927, Fanconi (1927) described a familial form of aplastic anemia in three brothers with short stature, hypogonadism, and skin pigmentation. It is the most common inherited form of aplastic anemia, affecting 1 in 100,000 to 1 in 200,000 live births (Ahmad et al. 2002; Rosenberg et al. 2011). The carrier frequency is estimated as 1 in 300 (Erdmann 2003) in Europe and the United States. Founder mutations have been described in Ashkenazi Jews, who have carrier frequency of 1 in 89 (Tischkowitz and Hodgson 2003).
KeywordsHematopoietic Stem Cell Transplantation Aplastic Anemia Myelodysplastic Syndrome Acute Myelogenous Leukemia Fanconi Anemia
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