title: Compound heterozygosity for two genotypes of alpha-thalassemia-2: hematological, biosynthetic and DNA studies.
abstract: Hemoglobin and DNA gene analyses were carried out in two Black Canadian families. In Family Q, both the parents and the brother were found to be heterozygotes for alpha-thalassemia-2 with the following alpha-genotypes: -alpha 3.7/alpha alpha, -alpha 4.2/alpha alpha and -alpha 4.2/alpha alpha, respectively. In Family C, the mother was found to be a homozygote for alpha-thalassemia-2 with the alpha-genotype of -alpha 3.7/-alpha 3.7. In both families, the propositi were compound heterozygotes for alpha-thalassemia-2 with the alpha-genotype of -alpha 3.7/-alpha 4.2. The propositus in Family C was also a sickle cell trait carrier. The usefulness of DNA gene analyses in family studies of hemoglobinopathy was discussed.
mesh_terms: D000328:Adult; D004247:DNA / Q000032:analysis*; D004912:Erythrocytes / Q000473:pathology; D005838:Genotype; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D006454:Hemoglobins; D004247:DNA