[Localized gene of the rare "Norrland disease". CDA-III blood disease with dominant heredity]. / Sällsynt "Norrlandssjukdom" genlokaliserad. CDA-III blodsjukdom med dominant ärftlighetsgång.

ABSTRACT

The article consists in a review of available knowledge of the rare blood disorder, congenital dyserythropoietic anaemia, type III (CDA-III), a disease characterised by autosomal dominant heredity, and mild to moderate haemolytic anaemia. The gene causing CDA-III has been localised on chromosome 15q22. Most patients are adapted to their disease, and have few or no overt manifestations. Bone marrow examination yields a characteristic picture of erythroid hyperplasia and multinucleate erythroblasts. A Swedish family affected with CDA-III has been reported to be characterised by a high prevalence of monoclonal gammopathy and angioid streaks, a triad suggested by the authors to represent a hitherto unreported syndrome.