Hemoglobin J Iran alpha 2 beta 2 77 (EF1) his----Asp in a Russian-Armenian family.
A third case of Hb J Iran is reported. The propositus is of Russian-Armenian origin and was investigated for hematuria. The electrophoretic behavior and the characterization of primary structure are described. Hb J Iran is stable and has normal functional properties. High resolution Nuclear Magnetic Resonance spectra suggest the presence of structural perturbations in the heme pocket of the variant. Solubility studies of Hb S/Hb J Iran mixture indicated that His beta 77 belongs to a contact region of deoxy Hb S polymers.
D000293:Adolescent; D001136:Armenia / Q000208:ethnology; D004586:Electrophoresis; D006417:Hematuria / Q000097:blood / Q000235:genetics; D006448:Hemoglobin J / Q000235:genetics / Q000302:isolation & purification*; D006455:Hemoglobins, Abnormal / Q000302:isolation & purification*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012995:Solubility
D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; C036257:hemoglobin J Iran