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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.
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| Copyright © 1987 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||