Homozygous haemoglobin D Punjab.
A homozygote for the gene controlling Hb D Punjab is described. The diagnosis is supported by the peptide analysis of the haemoglobin and the examination of both parents. There was no anaemia or reticulocytosis and there was balanced synthesis of both the alphaA- and betaD-globin chains in reticulocytes. However, the oxygen affinity of the haemolysate had a small but significantly higher oxygen affinity than normal. The only other abnormalities were a somewhat decreased osmotic fragility and a slight anisocytosis of the red cells.
D000596:Amino Acids / Q000032:analysis; D001663:Bilirubin / Q000097:blood; D004912:Erythrocytes / Q000502:physiology; D005914:Globins / Q000096:biosynthesis; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007194:India; D008297:Male; D009996:Osmotic Fragility; D010100:Oxygen / Q000378:metabolism; D010375:Pedigree
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D005914:Globins; D001663:Bilirubin; D010100:Oxygen