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Genotypic and Phenotypic Composition of Sickle Cell Disease in the Arab Population A Systematic Review.pdf (1.16 MB)

Genotypic and Phenotypic Composition of Sickle Cell Disease in the Arab Population - A Systematic Review

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submitted on 2023-05-15, 09:19 and posted on 2023-05-16, 05:09 authored by Fateen Ata, Alaa Rahhal, Lujain Malkawi, Phool Iqbal, Ibrahim Khamees, Mousa A. AlHiyari, Zohaib Yousaf, Hanan Qasim, Awni Alshurafa, Sundus Sardar, Saad Javed, Liam Fernyhough, Mohamed Yassin

Sickle cell disease (SCD) is a genetic disease influenced by ethnicity and regional differences in its clinical course. Recent advances in the management of SCD with newer therapies are being introduced to the Western population. However, many of these treatments are yet to be used in the Arabic SCD population. Understanding the genetic variations of SCD regionally is essential to anticipate the utilization of new treatments. This systematic review’s main objective is to pool the available data on the genetic composition of SCD in the Arabic population. Data for 44,034 patients was extracted from 184 studies (11 case reports, 8 case series, 56 retrospectives, 107 prospective observational studies, and 2 clinical trials) using PubMed, Scopus, and Google Scholar. Male (49%) and female (51%) patients were equally reported wherever gender was available (N=13105). Various SCD genotypes were reported in a total of 14,257 patients, including Hb SS (77%) Hb Sβ0 (9.9%), and Hb Sβ+ (7.2%), while the rest of the genotypes, including HbSC, HbSD, HbSE, HbSO Arab, Hb S/α-Thal, Hb Sβ0 + α-Thal, and HBS Oman were individually reported in <4% of the cases. Major SCD complications in the Arab population included pain crises (48.25%) followed by neurological complications (33.46%), hepatobiliary complications (25.53%), musculoskeletal complications (24.73%), and hemolytic anemia (23.57%). The treatments reported for SCD included hydroxyurea (20%), blood transfusion (14.32%), and Deferasirox (3.03%). We did not find the use of stem cell transplantation or newer treatments such as L-Glutamine, Voxelotor, Crizanlizumab, or gene therapy reported in any of the studies included in our review. This review highlights the genetic makeup of SCD in Arab countries and its common phenotypic manifestations and will help direct further research on SCD in this region, especially concerning genetic therapy.

Other information

Published in: Pharmacogenomics and Personalized Medicine
License:https://creativecommons.org/licenses/by/4.0/
See article on publisher'swebsite:http://dx.doi.org/10.2147/PGPM.S391394

Funding

Open Access funding provided by the Qatar National Library

History

Language

  • English

Publisher

Dove Medical Press

Publication Year

  • 2023

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License

Institution affiliated with

  • Hamad Medical Corporation
  • Hamad General Hospital - HMC
  • National Center for Cancer Care and Research - HMC
  • Weill Cornell Medicine - Qatar