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).
KeywordsLeukemia Adenoma Folate Neutropenia Androgen
- Alter, B. P., & Kupfer, G. (2013). Fanconi anemia. GeneReviews. Updated February 7, 2013. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1401/
- Fanconi, G. (1927). Familiäre infantile perniziosaartige Anämie (pernizioses Blutbild und Konstitution). Jahrb Kinderhilkd, 117, 257–280.Google Scholar
- Lipton, J. M. (2016). Fanconi anemia. Medscape Reference. Updated February 10, 2016. Available at: http://emedicine.medscape.com/article/960401-overview