Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia.

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Abstract
A family is described in which 3 male members who died in early infancy with severe thrombocytopenia and a 4th in adolescence with aplastic anemia. One child was investigated in detail and had amegakaryocytic thrombocytopenia, progressing to pancytopenia as a result of bone marrow hypoplasia. His associated congenital abnormalities differed from those described in Fanconi''s aplastic anemia, his chromosomes were normal, and the fetal Hb level was 48%. Amegakaryocytic thrombocytopenia is itself rare and the index case appears unique. This family may have a previously undescribed X linked variety of amegakaryocytic thrombocytopenia.