[The molecular basis of HbH disease in a Japanese girl].
Hemoglobin H disease is often caused by deletion of three of the four alpha-globin genes (genotype: --/-alpha). We studied a Japanese girl who had microcytic hypochromic anemia, a decreased alpha/beta globin synthetic ratio and about 8% Hb H in her fresh hemolysate, by means of restriction endonuclease mapping of the alpha-like gene complex (5'-zeta-phi zeta-phi alpha 2-phi alpha 1-alpha 2-alpha 1-theta-3') with zeta- and alpha-specific probes. It was found that the defect of one chromosome was associated with the removal of about 18 kb of DNA, known as --SEA type alpha-thalassemia-1, including the deletion of the part of phi alpha 2, phi alpha 1, alpha 2, alpha 1, and theta globin genes, while the other one was associated with the removal of 3.7 kb of DNA, known as rightward deletion type alpha-thalassemia-2. The results of a family study demonstrated that the deletion haplotype --SEA was inherited from her father's side and the other -alpha 3.7 from her mother's side.
Harano
T
T
Harano
K
K
Ueda
S
S
Nagao
T
T
Mori
T
T
D044466:Asian People; D002675:Child, Preschool; D004247:DNA; D005260:Female; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000096:biosynthesis; D006801:Humans; D007564:Japan; D015183:Restriction Mapping; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins; D004247:DNA