title: Genetic and biosynthetic studies of families carrying hemoglobin J alpha Mexico: association of alpha-thalassemia with HbJ.
abstract: Hemoglobin J Mexico, an alpha chain mutant, was studied in eight unrelated Algerian families. The quantities of the abnormal hemoglobin in 116 subjects are trimodally distributed: 55% in homozygotes, 31% and 38% in heterozygotes. Both hematological data and the alpha/beta chain biosynthetic ratio are normal in heterozygotes with 31% Hb J and in homozygotes. In contrast, the MCV and MCH as well as the alpha/beta biosynthetic ratio are slightly reduced in heterozygotes with 38% Hb J and in their relatives carrying Hb A. The elevated expression of alphaJ chains in heterozygotes with 38% Hb J may be due to an alpha thalassemia gene trans to the alphaJ locus.
mesh_terms: D000462:Algeria; D002452:Cell Count; D002874:Chromosome Mapping; D004912:Erythrocytes / Q000166:cytology; D005260:Female; D005796:Genes; D006448:Hemoglobin J / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J