title: Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families.
abstract: Two Mexican families from the State of Jalisco have been studied in which 11 members were carriers of Hb Tarrant. Ten subjects were Hb Tarrant heterozygotes producing about 25% of the abnormal hemoglobin. One 9-year-old boy was homozygous for Hb Tarrant. About 50% of his hemoglobin was of the variant type. The heterozygotes had mild erythrocytosis which was considerably more severe in the homozygote. The average P50 value for blood of the heterozygote was 15.1 mm Hg (controls: 22.5 mm Hg) while this value was decreased to 9 mm Hg in the homozygote. The clinical condition of the homozygote is compatible with a mild chronic tissue hypoxia.
mesh_terms: D001224:Aspartic Acid; D055598:Chemical Phenomena; D002621:Chemistry; D002648:Child; D005455:Fluorescent Antibody Technique; D006455:Hemoglobins, Abnormal; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010100:Oxygen / Q000097:blood*; D010375:Pedigree; D011086:Polycythemia / Q000209:etiology
chemical_list: D006455:Hemoglobins, Abnormal; D001224:Aspartic Acid; C030900:hemoglobin Tarrant; D010100:Oxygen