Interaction of heterozygous beta zero-thalassemia with single functional alpha-globin gene.
In this study, we analyzed the phenotypic manifestations resulting from the interaction of heterozygous beta zero-thalassemia(beta zero-39 nonsense mutation) with the functional loss of three alpha-globin structural genes in six subjects, of whom four had the [-alpha/--]alpha-globin genotype and two the [--/alpha Th alpha] alpha-globin genotype. The beta-thalassemia defect was in all cases the nonsense mutation at codon 39. The nondeletion alpha-thalassemia alpha th was the initiation codon mutation (AUG----GUG) of the alpha-2 gene. In all these subjects hypochromia and microcytosis were more marked than in beta zero-thalassemia heterozygotes with a full complement of four alpha-globin genes. All but one had moderate anemia. The alpha:beta globin chain synthesis ratios were consistently decreased. No cases had Hb H on electrophoresis. Subjects with [--/alpha Th alpha] alpha-globin genotype had more severe thalassemia-like manifestations than those with [--/-alpha] alpha-globin genotype.
Galanello
R
R
Istituto di Clinica e Biologia dell'Eta' Evolutiva, Universita' degli Studi di Cagliari, Sardinia, Italy.
Paglietti
E
E
Melis
M A
MA
Crobu
M G
MG
Addis
M
M
Moi
P
P
Cao
A
A
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000032:analysis / Q000473:pathology; D005260:Female; D015321:Gene Rearrangement; D005796:Genes; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis / Q000145:classification; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins