THE MOLECULAR-BASIS OF BETA-THALASSEMIA IN LEBANON - APPLICATION TO PRENATAL-DIAGNOSIS
- 1 April 1987
- journal article
- research article
- Vol. 69 (4) , 1141-1145
Abstract
A study of the molecular lesions of .beta.-thalassemia in Lebanon revealed the presence of eight different mutations in 25 patients with Cooley''s anemia. The IVS1 position 110 mutation predominated with a frequency of 62% and was almost invariably associated with Mediterranean chromosome haplotype I. Five other mutations commonly found in the Mediterranean area occurred with frequencies of 2% to 8%. In addition a G .fwdarw. C substitution in IVS1 position 5 (a lesion previously found in Chinese and Asian Indians) was demonstrated in a patient with Mediterranean haplotype IX. A new mutation at codon 29 was found in two other patients with haplotype II. The characterization of these .beta.-thalassemia mutations should allow the implementation of a prenatal diagnosis program in that country.This publication has 17 references indexed in Scilit:
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