Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia.
A family is described in which three male members died in early infancy with severe thrombocytopenia and a fourth in adolescence with aplastic anaemia. One child was investigated in detail and shown to have amegakaryocytic thrombocytopenia, progressing to pancytopenia as a result of bone marrow hypoplasia. His associated congenital abnormalities differed from those described in Fanconi's aplastic anaemia, his chromosomes were normal, and the fetal haemoglobin level was 48%. Amegakaryocytic thrombocytopenia is itself rare and the index case appears unique. It is suggested that this family has a previously undescribed X linked variety of amegakaryocytic thrombocytopenia.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000741:Anemia, Aplastic / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics*; D014960:X Chromosome
D005319:Fetal Hemoglobin