Abstract
β-Thalassemia is the most common inherited disorder in Azerbaijan. The aim of our study was to reveal genotype-to-phenotype correlations of the most common β-thalassemia mutations in an Azerbaijani population. Patients with codon 8 (-AA), IVS-I-6 (T>C), and IVS-II-1 (G>A) mutations, which are reportedly the most common β-globin gene mutations among the local population, were tested for hematologic parameters. Fifty-five previously tested patients with known genotypes were included in the study. Hematologic indices and hemoglobin fractions were tested in order to reveal the phenotypic manifestation of the mutations. The results obtained indicate that clinical presentation varies between different β-globin gene mutations: individuals with IVS-I-6 (T>C) mutations showed milder presentation than those with codon 8 (-AA) and IVS-II-1 (G>A), which is associated with the molecular basis of the mutations. These data can be of assistance to predict clinical presentation and select the best possible therapeutic approach via early genotype identification.
Highlights
Hereditary hemoglobinopathies are the most common monogenic diseases
There was a statistically significant difference (p
The former was associated with comparably lower RBC and higher MCV and MCH mean values
Summary
Hereditary hemoglobinopathies are the most common monogenic diseases. It is estimated that the frequency of carriers is 5.2% among the world population and there are over 330,000 births with hemoglobin disorders annually, of which 17% are thalassemias [1,2]. There are more than 200 mutations associated with β-thalassemias, and the spectrum and frequency of mutations varies significantly even in different regions of a single country [3,4]. The frequency of carriers of β-thalassemia genes varies in different regions of the country from 0% to 17%, with a mean of 8.7% [6]. Β-Thalassemia is known for its extremely diverse clinical manifestations. It can be expressed mildly without a need for treatment, or in a severe form observed as profound anemia, hepatosplenomegaly, and significant deteriorations in bones that can be lethal during childhood if not treated appropriately [9,10]. Determination of factors causing such a diverse clinical presentation has clinical significance, and the major reason for such diversity is the variety of mutations
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