Abstract
ABSTRACT Introduction: Beta-thalassemia is caused by a deficient synthesis of the s-chain of hemoglobin, which leads to a chronic, microcytic and hypochromic anemia. More than 200 mutations have already been associated with this type of thalassemia, and their frequencies may vary according to the population. Objectives: The objectives of this study were to determine the frequencies of CD39, IVS1-1, IVS1-6 and IVS1-110 mutations in people with beta-thalassemia from the city of Franca, Sao Paulo, and to evaluate the influence of the genotypes on hematological alterations. Methods: Venous blood samples were collected from 25 volunteers previously diagnosed with beta-thalassemia. Complete blood counts (CBC) were performed, and the identification of the mutations was carried out using the polymerase chain reaction (PCR). Results: The CD39 mutation was found in 11 (44%) individuals, followed by IVS1-6 (9; 36%) and IVS1-110 (4; 16%). One patient (4%) did not present any of these mutations. IVS1-6 mutation was inversely correlated to red cell distribution width (RDW) (rs = -0.44; p = 0.034), and CD39 was correlated to lower mean corpuscular volume (MCV) (rs = -0.44; p = 0.034). Multivariable linear regression models showed that the CD39 mutation carriers have lower levels for hemoglobin (s = -0.61; p = 0.044) and hematocrit (s = -2.1; p = 0.018). Conclusion: The results showed a high frequency of the CD39 mutation in the city of Franca, and the correlations observed between the presence of CD39 mutation and the hematological alterations suggest a genotype influence on the phenotype of beta-thalassemia, which would contribute to the clinical variations of this hemoglobinopathy.
Highlights
Beta-thalassemia is caused by a deficient synthesis of the ß-chain of hemoglobin, which leads to a chronic, microcytic and hypochromic anemia
The results showed a high frequency of the CD39 mutation in the city of Franca, and the correlations observed between the presence of CD39 mutation and the hematological alterations suggest a genotype influence on the phenotype of beta-thalassemia, which would contribute to the clinical variations of this hemoglobinopathy
In Brazil, beta-thalassemia is more prevalent in the Southeast region, with 66% of all the cases concentrated in this area[25]
Summary
Beta-thalassemia is caused by a deficient synthesis of the ß-chain of hemoglobin, which leads to a chronic, microcytic and hypochromic anemia. Objectives: The objectives of this study were to determine the frequencies of CD39, IVS1-1, IVS1-6 and IVS1-110 mutations in people with beta-thalassemia from the city of Franca, São Paulo, and to evaluate the influence of the genotypes on hematological alterations. Hemoglobin (Hb) disorders are the most common inherited and monogenic diseases as 7% of the world population is believed to be carrier of a mutant gene for thalassemias or other hemoglobinopathies[1, 2]. These mutations may cause qualitative or quantitative damages to Hb, depending on the affected site[3,4,5]. In Brazil, four mutations are frequently reported in the genetic studies: CD39 C>T (HBB: c.118C>T), IVS1 nt G>A (HBB: c.92+1G>A), IVS1 nt T>C (HBB:c.92+6T>C) and IVS1 nt110 G>A (HBB: c.93-21G>A)(9, 12)
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