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Fanconi Anemia

  • Harold Chen
Living reference work entry

Abstract

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).

Keywords

Hematopoietic Stem Cell Transplantation Aplastic Anemia Myelodysplastic Syndrome Acute Myelogenous Leukemia Fanconi Anemia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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