[Haemoglobin M-Homburg (author's transl)].
Haemoglobin M is a rare cause of congenital cyanosis and is usually misdiagnosed as being due to congenital heart disease. This was also the case in a family on whom this report is based. In five members of three generations the characteristic grey-blue cyanosis was due to a haemoglobin M anomaly. In all of them cardiopulmonary disease, anaemia and haemolysis had been excluded. The amino-acid substitution was in the alpha-chain of the globin molecule. Consequently the carriers of the trait have an abnormal haemoglobin content of 20-25%. Despite marked cyanosis they feel well.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006455:Hemoglobins, Abnormal; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D006455:Hemoglobins, Abnormal
Hämoglobin-M-Homburg. Hämoglobin-Anomalie als seltene Differentialdiagnose der angeborenen Zyanose