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397463

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

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Last updated: 24 Dec 2024

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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 -α3.7/ -α3.7. Alleles show diversity in Middle Eastern populations. Even genotype-matched people had different haematological parameters.  Haematological criteria cannot uniquely characterize any alpha thalassaemia mutation. 

DOI

10.21608/eajbsc.2024.397463

Keywords

Alpha-Globins, Middle Eastern People, alpha-Thalassemia, Prenatal Diagnosis, genotype

Authors

First Name

Maha

Last Name

Morsi

MiddleName

H.

Affiliation

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

Email

-

City

Egypt

Orcid

-

First Name

Hayaa

Last Name

Alhuthali

MiddleName

M.

Affiliation

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

Email

hmhuthali@tu.edu.sa

City

Saudi Arabia

Orcid

-

First Name

Heba

Last Name

Elmasry

MiddleName

M.

Affiliation

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

Email

heba.elmasri2030@aun.edu.eg

City

Egypt

Orcid

-

First Name

Shmoukh

Last Name

Alghuraibi

MiddleName

-

Affiliation

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

Email

s.alghuraibi@alborgdx.com

City

Saudi Arabia

Orcid

-

First Name

Ola

Last Name

Elgaddar

MiddleName

-

Affiliation

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

Email

ola.elgaddar@alexu.edu.eg

City

Egypt

Orcid

-

First Name

Amal

Last Name

Gharib

MiddleName

F.

Affiliation

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

Email

dr.amal.f.gharib@gmail.com

City

Saudi arabia

Orcid

-

First Name

Doha

Last Name

Ahmed

MiddleName

E.

Affiliation

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

Email

dohaelsayed2021@gmail.com

City

Egypt

Orcid

-

Volume

16

Article Issue

2

Related Issue

48899

Issue Date

2024-12-01

Receive Date

2024-11-13

Publish Date

2024-12-21

Page Start

455

Page End

471

Print ISSN

2090-0767

Online ISSN

2090-083X

Article File

EAJBSC_Volume 16_Issue 2_Pages 455-471.pdf

PDF . 846.5kB

Link

https://eajbsc.journals.ekb.eg/article_397463.html

Detail API

https://eajbsc.journals.ekb.eg/service?article_code=397463

Order

397,463

Type

Original Article

Type Code

673

Publication Type

Journal

Publication Title

Egyptian Academic Journal of Biological Sciences. C, Physiology and Molecular Biology

Publication Link

https://eajbsc.journals.ekb.eg/

MainTitle

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

Details

Type

Article

Created At

24 Dec 2024