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Molecular characterization of β-thalassemia mutations in Guadeloupe by Romana, M.; Keclard, L.; Guillemin, G.; Lavocat, E.; Saint-Martin, C.; Berchel, C.; Mérault, G. is a Medicine article available to read on EtoBox.

What is Molecular characterization of β-thalassemia mutations in Guadeloupe about?

In order to perform genetic counselling and prenatal diagnosis of Hb-S-beta-thalassemia disease and beta-thalassemia, we have delineated the spectrum of beta-thalassemia alleles in the Guadeloupean population. A sample of 63 unrelated families was analyzed including 70 beta-thalassemia carriers, 52 Hb-S-beta-thalassemia, and 8 patients with different beta-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 beta-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- 11-849 (A --> G), Hb E, and Hb Lepore are less frequent. As a result, Hb S-beta+-thalassemia type 1 (low Hb A values: 5-15%) together with Hb S-beta(omicron)-thalassemia phenotypes are as frequent as Hb S-beta+-thalassemia type 2 (high Hb A values: 20-30%) in the Guadeloupean population. Patients with Hb S-beta+-thalassemia type 2 have milder hematological manifestations of the disease compared to patients with Hb S-beta(omicron)-thalassemia and Hb S-beta+-thalassemia type 1. This first r

Who reads Molecular characterization of β-thalassemia mutations in Guadeloupe?

Author

Romana, M.; Keclard, L.; Guillemin, G.; Lavocat, E.; Saint-Martin, C.; Berchel, C.; Mérault, G.

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0361-8609)

Published

1996

Language

EN

Field

Medicine (Health Sciences)