Molecular spectrum of β-thalassemia mutations in the admixed Venezuelan population, and their linkage to β-globin gene haplotypes.

In order to establish the spectrum of β-thalassemia (β-thal) mutations in the Venezuelan population for the first time, 127 unrelated subjects either with a suspicion of β-thal trait or with a clinically recognized β-thal syndrome of different degrees of severity, were studied. DNA from these subjects was analyzed by a polymerase chain reaction (PCR)-based reverse dot-blot method or amplification refractory mutation system (ARMS). Prototype β-globin gene sequencing of relevant DNA was performed to confirm the mutations.

Hemoglobin variants, hematological parameters and beta-globin gene cluster haplotypes in an isolated Amerindian group from the Orinoco River Delta.

Background: Several previous studies reported that the Venezuelan Warao Indians presented unusual genetic characteristics.

Aim: The present study checked previous reports of a high frequency of hereditary persistence of fetal hemoglobin (HPFH) and examined other hematological traits.

Subjects And Methods: Standard hematology, electrophoresis on cellulose acetate, fetal hemoglobin alkali denaturation, gamma-globin chain, DNA amplification and sequencing, and denaturing gradient gel electrophoresis determinations were performed in 269 individuals living in two localities of the Orinoco River Delta.

[Phenotyping and genotyping studies in a family with the compound heterozygosity deltabeta Thalassemia/beta(IVSII-849) Thalassemia].

The propositus is a two year old child with a severe hemolytic anemia and increased level of Hb F. The Hbs A, A2 and F were eluted and quantitated by cation exchange high-performance liquid chromatography (HPLC-CE). DNA was isolated from peripheral blood leukocytes by a salting-out extraction procedure.

[Advantages in the use of high performance liquid chromatography technique for screening hemoglobinopathies in Venezuela].

The hemoglobinopathies are a very heterogeneous group of congenital hemolytic anemias, which includes hemoglobin (Hb) variants, thalassemia and hereditary persistence of fetal hemoglobin (HPFH). The aim of this study was to determine the frequency of hemoglobinopathies using the High Performance Liquid Chromatography (HPLC-CE) technique with the beta-thalassemia Short Program of Variant* Bio Rad. Four thousand blood samples from anemic patients from the Laboratorio de Investigación de Hemoglobinas Anormales, Hospital Universitario de Caracas were studied.