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.
D000328:Adult; D000741:Anemia, Aplastic / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male
D005319:Fetal Hemoglobin