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Case Report

Fanconi’s Anaemia

Ninza Rawal* , Ninza Rawal* , Sunil Mhaske** , Liza Bulsara*

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Pediatric Education and Research 4(2):p 107-108, May-Aug 2016. | DOI: DOI: https://dx.doi.org/10.21088/per.2321.1644.4216.13

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Abstract

 Fanconi anaemia (FA) is a very rare genetic disease with an incidence estimated at 1 per 130,000 births. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair As a result, the majority of FA patients develop cancer, most often Acute Myelogenous Leukemia, and 90% develop Bone Marrow Failure by age 40. About 60–75% of FA patients have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Median age of death is around 30­35 years. Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long­term treatment is Bone Marrow Transplant if a donor is available. 

Keywords: Fanconi; Anaemia; Bone Marrow Failure.

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DOI: DOI: https://dx.doi.org/10.21088/per.2321.1644.4216.13

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