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Congenital Erythroid Hypoplastic Anaemia: Autosomal Dominant Transmission
Author(s) -
Lawton John W. M.,
Aldrich John E.,
Turner Thomas L.
Publication year - 1974
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1974.tb00270.x
Subject(s) - hypoplasia , transmission (telecommunications) , inheritance (genetic algorithm) , genetics , pediatrics , medicine , biology , anatomy , gene , electrical engineering , engineering
In congenital erythroid hypoplasia (Diamond‐Blackfan syndrome) a genetic transmission has been described in only a few cases. We report a family where the evidence points to an autosomal dominant mode of inheritance, the first report of this kind where the father has had documented anaemia in infancy. The literature is reviewed.