Identification of Two Rare β-Globin Gene Mutations in a Patient with β-Thalassemia Intermedia from Azerbaijan

Asadov, Chingiz; Abdulalimov, Eldar; Mammadova, Tahira; Qafarova, Surmaya N.; Guliyeva, Yegana; Tuli, Abdullah; Çürük, Mehmet Akif

doi:10.3109/03630269.2013.774283

Cited by 4 publications

(1 citation statement)

References 13 publications

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“…A number of studies revealed genotype-to-phenotype correlations of β-thalassemia mutations in various populations [ 17 , 18 , 19 ], and we hereby report the first one conducted in an Azerbaijani population. Recent studies reported 22 mutations of β-thalassemia in Azerbaijan, and it was found that the most common mutations among the Azerbaijani population are codon 8 (-AA), IVS-I-6 (T>C), and IVS-II-1 (G>A) [ 7 , 20 , 21 ]. The aim of our study was to investigate phenotypic manifestations of these three mutations by studying their hematologic parameters and clinical presentation in heterozygous, homozygous, and compound forms.…”

Section: Introductionmentioning

confidence: 99%

Genotype – Phenotype Correlations of β-Thalassemia Mutations in Azerbaijani population

Asadov¹,

Abdulalimov²,

Mammadova³

et al. 2017

Tjh

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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.

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Section: Introductionmentioning

confidence: 99%

Genotype – Phenotype Correlations of β-Thalassemia Mutations in Azerbaijani population

Asadov¹,

Abdulalimov²,

Mammadova³

et al. 2017

Tjh

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β-Thalassemia intermedia: a comprehensive overview and novel approaches

Asadov¹,

Alimirzoeva²,

Mammadova³

et al. 2018

Int J Hematol

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β-Thalassemia intermedia is a clinical condition of intermediate gravity between β-thalassemia minor, the asymptomatic carrier, and β-thalassemia major, the transfusion-dependent severe anemia. It is characterized by a significant clinical polymorphism, which is attributable to its genetic heterogeneity. Ineffective erythropoiesis, chronic anemia, and iron overload contribute to the clinical complications of thalassemia intermedia through stepwise pathophysiological mechanisms. These complications, including splenomegaly, extramedullary erythropoiesis, iron accumulation, leg ulcers, thrombophilia, and bone abnormalities can be managed via fetal hemoglobin induction, occasional transfusions, chelation, and in some cases, stem cell transplantation. Given its clinical diversity, thalassemia intermedia patients require tailored approaches to therapy. Here we present an overview and novel approaches to the genetic basis, pathophysiological mechanisms, clinical complications, and optimal management of thalassemia intermedia.

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Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene

et al. 2022

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Identification of Two Rare β-Globin Gene Mutations in a Patient with β-Thalassemia Intermedia from Azerbaijan

Cited by 4 publications

References 13 publications

Genotype – Phenotype Correlations of β-Thalassemia Mutations in Azerbaijani population

Genotype – Phenotype Correlations of β-Thalassemia Mutations in Azerbaijani population

β-Thalassemia intermedia: a comprehensive overview and novel approaches

Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene

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