Köln Haemoglobinopathy: FURTHER DATA AND A COMPARISON WITH OTHER HEREDITARY HEINZ BODY ANAEMIAS

Abstract

SUMMARY: Five patients with haemolytic anaemia from one family were studied; three had splenomegaly and one who had been splenectomized had numerous inclusions in his fresh red cells. An abnormal haemoglobin was found by electrophoresis. This was isolated and identified as α₂β₂ 98 Valine → Methionine, i.e. Haemoglobin Köln.Abnormal red cell GSH and methaemoglobin values were found in fresh and incubated blood. The presence of a heat‐labile haemoglobin fraction and the formation of inclusion bodies in red cells incubated in vitro was confirmed. Red‐cell morphology and the benefit of splenectomy are discussed.The findings in patients with Haemoglobin Köln are compared with those reported in other hereditary Heinz‐body anaemias. It appears that at present Köln haemoglobinopathy is the commonest member of this group of disorders.