Molecular characterization of beta-thalassemia mutations in Guadeloupe

American Journal of Hematology
Marc RomanaG Mérault

Abstract

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 report on the type and nature of beta-thalassemi...Continue Reading

References

Jan 1, 1977·Hemoglobin·W A SchroederJ I Fisher
Jan 1, 1976·Hemoglobin·C AltayT H Huisman
Dec 1, 1992·American Journal of Hematology·G SchiliroT H Huisman
Sep 1, 1991·American Journal of Hematology·J M Gonzalez-RedondoT H Huisman
Mar 1, 1989·British Journal of Haematology·A CaoM Pirastu
Aug 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·R K SaikiH A Erlich
Sep 14, 1986·Biochemical and Biophysical Research Communications·C LapoumeroulieR Krishnamoorthy
Oct 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·U B Gyllensten, H A Erlich
Jan 1, 1985·Human Genetics·S E AntonarakisS H Orkin
Feb 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·S E AntonarakisH H Kazazian
May 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·T C ChengH H Kazazian
May 1, 1995·Hemoglobin·E Baysal, M F Carver

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Citations

Feb 26, 2000·British Journal of Haematology·A DonaldsonG R Serjeant
Sep 16, 2015·Hemoglobin·Aylla N L M SilvaJoão F Guerreiro
Feb 3, 2006·European Journal of Haematology·Vanessa TarerMarc Romana
Oct 23, 2013·Journal of Medical Screening·Christian Saint-MartinMaryse Etienne-Julan
Jan 11, 2019·Hemoglobin·Graham R SerjeantAndreas E Kulozik
Feb 8, 2008·American Journal of Human Biology : the Official Journal of the Human Biology Council·Altheia Jones-LecointeLisiane Kéclard
Jan 22, 2011·Hemoglobin·Graham R SerjeantAlan Donaldson
Nov 20, 2015·Journal of Pediatric Hematology/oncology·Marianne E M YeeFerdane Kutlar
Feb 11, 2000·Medizinische Klinik·J RichterM Schneider

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