MUTATION | ~7.6 kb deletion (see Fig. 4); the Turkish deletion | ||
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AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | No beta chain synthesis | ||
IDENTIFICATION | Gene mapping | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 11.3-11.9 g/dl; MCV 64-67 fl; MCH 18 pg; Hb A2 6.6, 8.5%; Hb F 1.0, 1.9% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | The homozygous proband is a few months old infant with severe anemia and the product of a consanguineous marriage | ||
OCCURRENCE | In a Turkish family | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None | ||
OTHER INFORMATION | The deletion includes the entire beta-globin gene and segments 5' and 3' to this gene; a second deletion of the same size is present and involves the psibeta gene; the delta gene is intact |
REFERENCES | |||
1. | Öner, C., Öner, R., Gürgey, A., and Altay, Ç.: Br. J. Haematol., 89:306, 1995. |