Zhang J W, Wu G Y, Yang X Y, Yang T Y
Sci Sin B. 1985 Jun;28(6):626-31.
Utilizing restriction endonuclease mapping and blot hybridization, we have determined the arrangement of the alpha-globin genes in a Chinese family. The father and mother had no obvious alpha-thalassemia symptoms, but their twin daughters suffered from HbH disease. The gene analysis showed that the mother had three alpha-globin genes in one chromosome and no alpha-globin gene in the other (alpha alpha alpha/--), the father was a heterozygote of alpha-thal2 (alpha alpha/-alpha). Their twin daughters were double heterozygotes of alpha-thall and the rightward deletion genotype alpha-tha12 (--/-alpha).
