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

• Published in: Pharmacogenomics and personalized medicine Vol. 16; pp. 133 - 144
• Main Authors: Ata, Fateen, Rahhal, Alaa, Malkawi, Lujain, Iqbal, Phool, Khamees, Ibrahim, Alhiyari, Mousa, Yousaf, Zohaib, Qasim, Hana, Alshurafa, Awni, Sardar, Sundus, Javed, Saad, Fernyhough, Liam, Yassin, Mohamed
• Format: Journal Article
• Language: English
• Published: New Zealand Dove Medical Press Limited 01.01.2023; Taylor & Francis Ltd; Dove; Dove Medical Press
• Subjects: arab; Arab people; Blood diseases; Blood transfusion; Blood transfusions; Case reports; Clinical trials; Gender; Gene therapy; Genetic disorders; Genetic diversity; Genotype & phenotype; Genotypes; Glutamine; Hemoglobin; Hemolytic anemia; Hydroxyurea; Medical research; Medical screening; Medicine, Experimental; Monoclonal antibodies; Mortality; Mutation; Neurological complications; Observational studies; Population; Population genetics; Pulmonary arteries; Review; scd; Sickle cell anemia; Sickle cell disease; Stem cell transplantation; Stem cells; Systematic review; Transplantation; Saudi Arabia; Qatar; Sub-Saharan Africa; Oman; Middle East; Arab countries; Europe; Egypt; Africa; Kuwait; Tunisia; Bahrain; genotypes; SCD; Arab; sickle cell anemia; sickle cell disease
• ISSN: 1178-7066; 1178-7066
• DOI: 10.2147/PGPM.S391394

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. The protocol has been registered in the International Prospective Register of Systematic Reviews(PROSPERO):CRD42020218,666. https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=218666.