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Pure red‐cell aplasia
Author(s) -
Gray Peter H.
Publication year - 1982
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1982.tb124149.x
Subject(s) - pure red cell aplasia , aplasia , sibling , genetic disorder , red cell , expressivity , psychology , pediatrics , medicine , genetics , developmental psychology , biology , anemia , psychiatry , gene
This paper describes a case of pure red‐cell aplasia in a child whose mother and grandfather also had the disorder. A raised haemoglobin F level was documented in the child and his mother in remission, and in a sibling who was not anaemic. Further support is provided for the theory that this disorder is inherited as an autosomal dominant with variable expressivity, and that a raised haemoglobin F level in a family member who is not anaemic is a genetic marker for pure red‐cell aplasia.