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Hereditary hemochromatosis and red cell aplasia
Author(s) -
Adams Paul C.
Publication year - 1994
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830450314
Subject(s) - hemochromatosis , hereditary hemochromatosis , aplastic anemia , medicine , sibling , human leukocyte antigen , aplasia , pure red cell aplasia , family history , pediatrics , pathology , immunology , gastroenterology , anemia , psychology , bone marrow , developmental psychology , antigen
A 63‐year‐old white man with myasthenia gravis and red cell aplasia was found to have hepatic iron overload. The differential diagnosis included hereditary hemochromatosis and secondary iron overload related to red cell aplasia. Family studies of siblings, including HLA typing, initially suggested a diagnosis of secondary iron overload. The investigation of a remote sibling led to the final diagnosis of hereditary hemochromatosis. The case illustrates the importance of complete family investigations in the differentiation between hereditary hemochromatosis and secondary iron overload and the potential hazard of using HLA typing as an indirect genetic test for hereditary hemochromatosis. © 1994 Wiley‐Liss, Inc.