title: Hemoglobin bologna (alpha 2 beta 2 61 (E5) lys replaced by met). An abnormal human hemoglobin with low oxygen affinity.
abstract: An abnormal human hemoglobin was found in association with beta-thalassemia in a hemolysate from an 11-year-old healthy child living in Bologna (northern Italy). Structural studies demonstrated a previously unreported amino acid substitution, beta 61 (E5) Lys replaced by Met (this is an external residue). The new variant has been named Hb Bologna, and is characterized by a reduced oxygen affinity. Family studies indicated that the variant had been inherited from the father, a 41-year-old male of Southern Italian origin. Also, a brother of the propositus was found to be an abnormal Hb carrier.
mesh_terms: D000328:Adult; D000596:Amino Acids / Q000032:analysis; D002648:Child; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D006455:Hemoglobins, Abnormal / Q000378:metabolism*; D006801:Humans; D008297:Male; D010100:Oxygen; D013789:Thalassemia / Q000235:genetics
chemical_list: D000596:Amino Acids; D006455:Hemoglobins, Abnormal; C031005:hemoglobin Bologna; D010100:Oxygen