Premium
Köln Haemoglobinopathy: FURTHER DATA AND A COMPARISON WITH OTHER HEREDITARY HEINZ BODY ANAEMIAS
Author(s) -
Jones R. Vaughan,
Grimes A. J.,
Carrell R. W.,
Lehmann H.
Publication year - 1967
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1967.tb08754.x
Subject(s) - heinz body , red cell , splenectomy , methionine , valine , red blood cell , medicine , chemistry , biochemistry , hemoglobin , spleen , amino acid
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 α 2 β 2 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.