Pure red-cell aplasia. Occurrence in three generations

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 a 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.

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