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MUTATION | |
- -(YEM); a deletion of +39 kb involving the two alpha genes (Fig. 24) | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF ALPHA-THAL | |
alpha-Thal-1 [- -/] | |
MECHANISM | |
This large deletion removes both alpha-globin genes but not the zeta-globin gene; no functional alpha-mRNAs is produced | |
IDENTIFICATION | |
Gene mapping; see scheme below | |
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Restriction maps of the normal alpha-globin gene cluster and the location of the Yemenite deletion. The sizes of abnormal zeta-specific fragments are given in parentheses at left. The solid bar at the bottom shows the location of the deletion and the open bars indicate the limits of the breakpoints (from Ref. 1). | [Figure not yet available on-line.] |
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HEMATOLOGY IN HETEROZYGOTE(S) | |
Hb 10.2 g/dl; MCV 71 fl; MCH 20.8 pg; alpha/beta ratio 0.66 (mother of one of the patients with Hb H disease) | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
None | |
OCCURRENCE | |
Found in a few Yemenite families living in Israel | |
HAPLOTYPE | |
Not determined | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
Not reported | |
FOUND IN COMBINATION | |
With the -alpha(3.7 kb) deletion and with a nondeletional alpha-thal causing Hb H disease: Hb 9.6-10.9 g/dl; MCV 62-68 fl; MCH 17-20 pg; alpha/beta ratio 0.16, 0.24, 0.29, 0.36 | |
OTHER INFORMATION | |
None | |