Late-onset Fanconi anemia in an African-Caribbean patient.
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.
Alfred
Roslyn
R
Department of Medicine, Faculty of Medical Sciences, University of the West Indies, Mona, Kingston, Jamaica.
Buchner-Daley
Loretta
L
Soyibo
Adedamola
A
Brady-West
Doreen
D
Hardie
Rochelle
R
McGrowder
Donovan
D
D000328:Adult; D017668:Age of Onset; D001803:Blood Transfusion; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D005260:Female; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use; D007563:Jamaica; D013933:Thumb / Q000002:abnormalities
D007502:Iron Chelating Agents