Literature DB >> 20191926

Late-onset Fanconi anemia in an African-Caribbean patient.

Roslyn Alfred1, Loretta Buchner-Daley, Adedamola Soyibo, Doreen Brady-West, Rochelle Hardie, Donovan McGrowder.   

Abstract

A 38-year-old female of African-Caribbean origin presented with symptomatic anemia and was found to have hypoplastic thumbs and patchy hypopigmentation. Peripheral blood examination revealed pancytopenia and the bone marrow biopsy confirmed marrow hypoplasia. Fanconi anemia was later confirmed by flow cytometry and diepoxybutane testing. Treatment was limited to transfusions after development of toxicity with cyclosporine and androgen therapy. She manifested classical features of transfusion-related hemosiderosis and died 12 years after initial presentation.

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Year:  2010        PMID: 20191926     DOI: 10.1016/s0027-9684(15)30501-0

Source DB:  PubMed          Journal:  J Natl Med Assoc        ISSN: 0027-9684            Impact factor:   1.798


  1 in total

Review 1.  Fanconi anemia and the cell cycle: new perspectives on aneuploidy.

Authors:  Grzegorz Nalepa; D Wade Clapp
Journal:  F1000Prime Rep       Date:  2014-04-01
  1 in total

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