Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity.
An abnormal, fast moving hemoglobin was noted in a 34-yr-old male patient living in Legnano (northern Italy) affected with renal failure and iron deficiency anemia, not related to the presence of the Hb variant. Structural studies have demonstrated a previously undescribed amino acid substitution, alpha 141 Arg replaced by Leu. This new variant has been named Hb Legnano, and is characterized by an increased oxygen affinity and a low cooperativity, at least as far as preliminary functional studies carried out on whole blood have indicated. Family studies are reported: three other heterozygous carriers were observed among the relatives of the propositus, all showing a mild polycythemia which, however, does not seem to produce appreciable clinical consequences.
D000328:Adult; D055598:Chemical Phenomena; D002621:Chemistry; D004588:Electrophoresis, Cellulose Acetate; D006455:Hemoglobins, Abnormal; D006801:Humans; D008297:Male; D010375:Pedigree
D006455:Hemoglobins, Abnormal