Document Detail


Late-onset Fanconi anemia in an African-Caribbean patient.
MedLine Citation:
PMID:  20191926     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Roslyn Alfred; Loretta Buchner-Daley; Adedamola Soyibo; Doreen Brady-West; Rochelle Hardie; Donovan McGrowder
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the National Medical Association     Volume:  102     ISSN:  0027-9684     ISO Abbreviation:  J Natl Med Assoc     Publication Date:  2010 Feb 
Date Detail:
Created Date:  2010-03-02     Completed Date:  2010-03-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7503090     Medline TA:  J Natl Med Assoc     Country:  United States    
Other Details:
Languages:  eng     Pagination:  132-4     Citation Subset:  IM    
Affiliation:
Department of Medicine, Faculty of Medical Sciences, University of the West Indies, Mona, Kingston, Jamaica.
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MeSH Terms
Descriptor/Qualifier:
Adult
Age of Onset
Blood Transfusion
Fanconi Anemia / diagnosis*,  epidemiology,  therapy
Female
Humans
Iron Chelating Agents / therapeutic use
Jamaica
Thumb / abnormalities
Chemical
Reg. No./Substance:
0/Iron Chelating Agents

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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