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The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis

FF Chehab, V Der Kaloustian, FP Khouri, SS Deeb and YW Kan

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----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.

Volume 69, Issue 4, pp. 1141-1145, 04/01/1987
Copyright © 1987 by The American Society of Hematology


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A. Cao, L. Saba, R. Galanello, and M. C. Rosatelli
Molecular Diagnosis and Carrier Screening for {beta} Thalassemia
JAMA, October 15, 1997; 278(15): 1273 - 1277.
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