Molecular and Hematological Analysis of Alpha Thalassemia in Middle East Patients; A Cross-Sectional Retrospective Study

Morsi, Maha H.; Alhuthali, Hayaa M.; Elmasry, Heba M.; Alghuraibi, Shmoukh; Elgaddar, Ola; Gharib, Amal F.; Ahmed, Doha E.

doi:10.21608/eajbsc.2024.397463

Molecular and Hematological Analysis of Alpha Thalassemia in Middle East Patients; A Cross-Sectional Retrospective Study

Document Type : Original Article

Authors

¹ Faculty of Applied Health Sciences Technology Misr University for Sciences and Technology, P.O. Box 77, Giza, Egypt.

² Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Taif University, P.O. Box 11099, Taif 21944, Saudi Arabia.

³ Department of Clinical Pathology, South Egypt Cancer Institute, Assiut University, Assiut, Egypt.

⁴ Research and Development Unit, Al Borg Diagnostics, Jeddah, Saudi Arabia.

⁵ Department of Chemical Pathology, Medical Research Institute, Alexandria University, Alexandria, Egypt.

⁶ Misr University for Sciences and Technology, Clinical and Chemical Pathology Department, Giza, Egypt.

10.21608/eajbsc.2024.397463

Abstract

Hemoglobinopathy is the most frequent genetic illness worldwide. Alpha thalassemia is common in Middle East. The loss of one or both HBA genes in the -globin gene cluster causes alpha-thalassemia. The countrywide prevalence and distribution of alpha globin gene mutations must be studied. Molecular screening and detection improve thalassemia-risk prenatal diagnosis and genetic counselling. This article compares different alpha thalassaemia mutations molecular and haematological characteristics in the Middle East. This cross-sectional retrospective analysis was carried out from September 2022 to June 2023. A study investigated 200 samples of alpha thalassemia patients in the Middle East using Reversed Dot Blot Hybridization-based multiplex-PCR to screen for 21 known α-globin gene abnormalities. We found 17 alpha-globin gene variants. The first prevalent anomaly was (deletional) 3.7 homozygous (34.5%), and the second was 3.7 heterozygous (18.5%). The genotype (--^MED αα /α2 poly A2) was strongly linked with lower hemoglobin and RBCs levels in α-thalassemia (p-value of 0.027 and 0.042 respectively).The most prevalent alpha thalassemia abnormality is -α^3.7/ -α^3.7. Alleles show diversity in Middle Eastern populations. Even genotype-matched people had different haematological parameters. Haematological criteria cannot uniquely characterize any alpha thalassaemia mutation.

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