Functional activity of the triplicated alpha alpha alpha 4.2/gene rearrangement.
Function of the triplicated alpha alpha alpha 4.2/gene rearrangement was assessed by measurement of Hb Bart's and hematological phenotype including alpha/beta biosynthesis ratio. Increased output of alpha globin chains in alpha alpha alpha 4.2/-- compared to alpha alpha/-- was found in a cord blood. In contrast, hematological phenotypes in two family members with the alpha alpha alpha 4.2/-- genotype were consistent with that expected in alpha alpha/--. This would suggest that the additional alpha gene in the alpha alpha alpha 4.2/rearrangement has variable expression.
D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000502:physiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013789:Thalassemia / Q000097:blood
D006455:Hemoglobins, Abnormal; D004247:DNA; C030448:hemoglobin Bart's