Determination of beta-globin gene cluster haplotypes and prevalence of alpha-thalassemia in sickle cell anemia patients in Venezuela

Sickle cell anemia and or-thalassemia have a heterogeneous distribution in Venezuela with a high frequency in the coastal area (sea level) and few cas es in the mountains. Most of our population is an ethnic admixture of Europ eans (Spaniards colonists), Africans (slaves), and Amerindians. The purpose of our study was to determine the origin of the PB globin haplotype, age a nd survival dependency, and the admixture among the different African group s in our population. The alpha(3.7) globin gene deletion status was also st udied and found in a very high frequency. DNA from peripheral blood of 191 non-related patients (81 with HbS homozygous and 15 patients compound heter ozygous for HbS, HbC, HbD with beta-thalassemia, and 95 with sickle cell tr ait) were studied. The beta(s) chromosome was linked 51% to the Benin Haplo type, 29.5% with the CAR, 12.5% to the Senegal, and 2.5% to the Cameroon. W e did not find any significant difference between the haplotype distributio n among adults and children and among sickle cell patients and traits. Only 8.6% of the patients have homozygosity for the Benin haplotype. These resu lts show a very high frequency of admixture in our African origin populatio n. Am. J, Hematol, 64: 87-90, 2000. (C) 2000 Wiley-Liss, Inc.