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  • Title: [Haemoglobin M-Homburg (author's transl)].
    Author: Schneider W, Kirsch W.
    Journal: Dtsch Med Wochenschr; 1976 Mar 12; 101(11):405-8. PubMed ID: 1253702.
    Abstract:
    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.
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