ArticleTurkish journal of haematology : official journal of Turkish Society of Haematology2017
Genotype-Phenotype Correlations of β-Thalassemia Mutations in an Azerbaijani Population.
Article in Turkish journal of haematology : official journal of Turkish Society of Haematology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 16 citations in OpenAlex.
- Phenotypic Variability and Hematological Characterization of βJournal of clinical medicine research · 2025Article
- Determining the current prevalence of β-thalassemia variants in Jordan.Archives of medical science : AMS · 2023Article
- Biochemical and molecular analysis of the beta-globin gene and LCR region on Saudi β-thalassemia patients.Saudi journal of biological sciences · 2020Article
- Genotype-phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis.Journal of blood medicine · 2018Article
- Hematological and biochemical evaluation of β-thalassemia major (βTM) patients in Gaza Strip: A cross-sectional study.International journal of health sciencesArticle
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6 authors at 1 institution in 1 country.
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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.
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