APLASTIC ANEMIA IN CHILDHOOD: III. CONSTITUTIONAL APLASTIC ANEMIA AND RELATED CYTOPENIAS

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Abstract
Thirty‐four cases of constitutional aplastic anaemia and cytopenia are analysed. Fanconi's cytopenia included 23 cases of aplastic anaemia, three of preleukemia, and one of isolated thrombocytopenia. The presence of major or minor anomalies, frequent chromosomal aberrations, and consistent elevations of fetal haemoglobin concentrations were of great value in the diagnosis of the disorder. In seven of 25 families, leukaemia occurred in the propositus or a relative and the association between Franconi's cytopenia and leukaemia was emphasized. Therapy with steroids and androgens appeared to be valuable in producing partial haematological remission, but the ultimate prognosis for the disorder appears grave. Seven patients with the amegakaryocytic type of constitutional aplastic anæmia were studied. Characteristically, thrombocytopenia was observed in early infancy and progressed to pancytopenia after several months or years. In females, pancytopenia generally developed earlier and there was a high incidence of anomalies in the patients and family or a family history of blood disorders. There appeared to be sufficient reason to segregate this disorder into two subgroups, those affecting males and those affecting females.

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