Haemoglobin G-Szuhu, beta80 Asn-Lys, in the homozygous state in a patient with abetalipoproteinaemia.
An 11-year-old Jewish girl of Turkish extraction with abetalipoproteinaemia was found to be homozygous for haemoglobin Szuhu (beta80 Asn leads to Lys). Except for the abnormal haemoglobin, no other haematological or biochemical abnormalities were found in her consanguineous parents and one sister. In the propositus, erythrocyte morphology showed the acanthocytosis known to be in association with abetalipoproteinaemia. Increased autohaemolysis was also found, which reverted to normal after treatment with vitamin E. This case represents the first reported association of abetalipoproteinaemia with an abnormal haemoglobin, and the first homozygous Hb G-Szuhu.
D000012:Abetalipoproteinemia / Q000097:blood* / Q000235:genetics; D002648:Child; D004912:Erythrocytes; D005260:Female; D006455:Hemoglobins, Abnormal; D006720:Homozygote; D006801:Humans; D010100:Oxygen / Q000097:blood; D010446:Peptide Fragments
D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; D010100:Oxygen