Hemoglobin Hoshida (beta43 (cd-2) Glu leads to Gln), a new hemoglobin variant discovered in Japan.
An electrophoretically G-like hemoglobin variant, Hb Hoshida, was detected from a ten year old girl and her mother. No clinical and hematological abnormalities were seen in the individuals heterozygous for this mutant gene. Structural studies of this abnormal hemoglobin demonstrated a previously undescribed substitution of beta43 (CD-2) Glu leads to Gln. The proportion of the abnormal hemoglobin in hemolysate was 42.1 per cent. The hemoglobin revealed neither instabilities nor functional abnormalities.
D002648:Child; D005260:Female; D014644:Genetic Variation; D006453:Hemoglobinopathies / Q000453:epidemiology; D006455:Hemoglobins, Abnormal; D006801:Humans; D007564:Japan; D010108:Oxyhemoglobins; D010455:Peptides / Q000032:analysis
D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; D010455:Peptides