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Molecular characterization of β‐thalassemia mutations in Guadeloupe
Author(s) -
Romana M.,
Keclard L.,
Guillemin G.,
Lavocat E.,
SaintMartin C.,
Berchel C.,
Mérault G.
Publication year - 1996
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199612)53:4<228::aid-ajh3>3.0.co;2-#
Subject(s) - thalassemia , genetics , mutation , beta thalassemia , biology , medicine , gene
In order to perform genetic counselling and prenatal diagnosis of Hb‐S‐β‐thalassemia disease and β‐thalassemia, we have delineated the spectrum of β‐thalassemia alleles in the Guadeloupean population. A sample of 63 unrelated families was analyzed including 70 β‐thalassemia carriers, 52 Hb‐S‐β‐thalassemia, and 8 patients with different β‐thalassemic hemoglobinopathies. Among the eleven mutations identified, four of them [‐29 (A → G), IVS‐I‐5 (G → A), IVS‐II‐1 (G → A), and IVS‐I‐5 (G → C)] account for 77.6% of the β‐thalassemia chromosomes present in the studied families. The seven other variants, CD 24 (T → A), IVS‐I‐2 (T → C), Poly A (T → C), ‐88 (C → T), IVS‐II‐849 (A → G), Hb E, and Hb Lepore are less frequent. As a result, Hb S‐β ‐thalassemia type 1 (low Hb A values: 5–15%) together with Hb S‐β°‐thalassemia phenotypes are as frequent as Hb S‐β + ‐thalassemia type 2 (high Hb A values: 20–30%) in the Guadeloupean population. Patients with Hb S‐β ‐thalassemia type 2 have milder hematological manifestations of the disease compared to patients with Hb S‐β°‐thalassemia and Hb S‐β + ‐thalassemia type 1. This first report on the type and nature of β‐thalassemia mutations in Guadeloupe shows that prenatal diagnosis of Hb S‐β‐thalassemia and β‐thalassemia should be feasible by direct detection of point mutation in most cases. © 1996 Wiley‐Liss, Inc.