Widely distribution of hematological parameters in thalassemia patients with similar α-globin genotype

Abstract

BACKGROUND: Thalassemia is known as the commonest monogenic disorder with an imbalanced rate of globin chains production of adult hemoglobin. Despite the available information about the thalassemia etiology, its phenotype varies from each patient to another. This study aimed to evaluate the hematological parameters of patients with the same -α3.7 homozygote and heterozygote genotypes to amend screening programs.

METHODS: In this observational study, we evaluated 1301 thalassemia suspected patients who referred to the Thalassemia and Hemoglobinopathy Research Center of Ahvaz University of Medical Sciences, Khuzestan, Iran during 2014-2016. According to the genotyping studies, patients divided into 2 groups with -α3.7/aa (n = 646) and -α3.7/-α3.7 (n = 181) genotypes. Thereafter, distribution of hematological parameters evaluated in both groups.

RESULTS: The mean age in heterozygous and homozygous groups was 25.7±4.5 and 26±4.4 years old, respectively. The degree of anemia was considerably varied in patients with the same genotype. MCV, RBC and MCH showed a wide distribution in patients.

CONCLUSION: The findings presented here suggest that other molecular mechanisms along with α-globin gene mutations could be involved in determining the phenotypes of alpha thalassemia patients.

Key words： hematological parameters; α-globin genotype; alpha thalassemia

Acknowledgments

The authors would like to thank all of the research staff at Thalassemia and Hemoglobinopathy Research Center of Ahvaz University of Medical Sciences who helped to recruit patients and perform the experiments.

Ethics approval and consent to participate

The protocol is reviewed and approved by the Medical Ethics Committee of Ahvaz Jundishahpur University of Medical Sciences. All subjects gave informed consent to participate in the study. The authors declare that they have no conflict of interest.

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