RICHARD J. HIRSCHMAN, M.D.; N. RAPHAEL SHULMAN, M.D.; JULIAN G. ABUELO, M.D.; JACQUELINE WHANG-PENG, M.D.
Two brothers had aplastic anemia similar to Fanconi anemia but without associated congenital abnormalities. Both had mild clinical courses and prolonged response to androgen therapy, one had persistent remission for 3 years after therapy. Cultured peripheral lymphocytes of both patients showed a high prevalence of chromosomal breaks characteristic of Fanconi anemia. Electron microscopy did not show a morphologic basis for the chromosomal breaks. One brother had a stable translocation chromosome in bone marrow erythroid and myeloid cells. The other's cultured skin fibroblasts showed an increased susceptibility to "malignant" transformation by SV40 virus, a finding also characteristic of Fanconi anemia.
Skin fibroblasts from the normal mother and a normal sister showed an increased susceptibility to "malignant" transformation, suggesting that this test may provide a means of detecting the heterozygous carrier state. Since the patients studied could not be diagnosed as having Fanconi anemia on clinical grounds alone but did appear to represent a variant of the disease on the basis of chromosomal analysis and viral transformation studies, these tests may prove to be useful in distinguishing Fanconi-type anemia from other familial aplastic anemias and in predicting response to therapy.
RICHARD J. HIRSCHMAN, N. RAPHAEL SHULMAN, JULIAN G. ABUELO, JACQUELINE WHANG-PENG. Chromosomal Aberrations in Two Cases of Inherited Aplastic Anemia with Unusual Clinical Features. Ann Intern Med. 1969;71:107–117. doi: 10.7326/0003-4819-71-1-107
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Published: Ann Intern Med. 1969;71(1):107-117.
Hematology/Oncology, Red Cell Disorders.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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