Published: 2021-11-24

Epidemiology of hereditary anemias in Saudi Arabia

Shada Murshed Alharbi, Jawad Hussain Alshaiti, Jamila Mofareh Ghazwani, Afia Mofareh Ghazwani, Nawaf Mohammed Alshahrani, Mohammad Yosof Banjar, Hager Saleh Alqahtani, Saleh Hamdan Alkathiri, Razan Abdullah Alhamyani, Abdulsalam Ibrahim Althumairy, Mohammed Mustafa Al Amer


The prevalence rates of hereditary anemias in Saudi Arabia are remarkably high when compared to other countries. For instance, estimates show that the prevalence of thalassemia constitutes one of the highest rates globally. Furthermore, it has been demonstrated that epidemiology significantly differs between the different regions across the Kingdom. Therefore, many epidemiological investigations were conducted. In this context, it has been demonstrated that the prevalence of thalassemia ranges from 0.4% to 5.9% in the Northern and Eastern regions, respectively. In the present literature review, we have discussed the different findings of epidemiological studies that studied the epidemiology of hereditary anemias in Saudi Arabia. We mainly discussed the epidemiology of glucose-6-phosphate dehydrogenase deficiency (G6PD), sickle cell disease, and thalassemia. Recent evidence indicates that the trends of β-thalassemia are significantly decreasing over the past years. On the other hand, it has been demonstrated that the prevalence trends of sickle cell disease is constant over the past years. G6PD is also highly prevalent in Saudi Arabia. However, recent evidence is lacking in the literature and needs to be updated by future investigations. Consanguineous marriage has been reported to be an important risk factor for the high prevalence of β-thalassemia and sickle cell disease across the Kingdom.


Hereditary anemias, Epidemiology, Prevalence, Risk factors, Saudi Arabia

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Chatterjee T, Chakravarty A, Chakravarty S. Population screening and prevention strategies for thalassemias and other hemoglobinopathies of Eastern India: experience of 18,166 cases. Hemoglobin. 2015;39(6):384-8.

Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bulletin of the World Health Organization. 2001;79:704-12.

Alsaeed ES, Farhat GN, Assiri AM. Distribution of hemoglobinopathy disorders in Saudi Arabia based on data from the premarital screening and genetic counseling program, 2011–2015. Journal of Epidemiology and Global Health. 2018;7:S41-7.

Memish ZA, Owaidah TM, Saeedi MY. Marked regional variations in the prevalence of sickle cell disease and β-thalassemia in Saudi Arabia: findings from the premarital screening and genetic counseling program. J Epidemiol Glob Health. 2011;1(1):61-8.

Memish ZA, Saeedi MY. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia. Ann Saudi Med. 2011;31(3):229-35.

El-Tayeb EN, Yaqoob M, Abdur-Rahim K, Gustavson KH. Prevalence of beta-thalassaemia and sickle cell traits in premarital screening in Al-Qassim, Saudi Arabia. Genetic counseling (Geneva, Switzerland). 2008;19(2):211-8.

Steensma DP, Hoyer JD, Fairbanks VF. Hereditary Red Blood Cell Disorders in Middle Eastern Patients. Mayo Clinic proceedings. 2001;76(3):285-93.

Gelpi AP. Glucose-6-phosphate dehydrogenase deficiency in Saudi Arabia: a survey. Blood. 1965;25(4):486-93.

Gandapur AS, Qureshi F, Mustafa G, Baksh S, Ramzan M, Khan MA. Frequency of glucose 6 phosphate dehydrogenase deficiency and related hemolytic anemia in Riyadh, Saudi Arabia. Journal of Ayub Medical College, Abbottabad. JAMC. 2002;14(3):24-6.

Szeinberg A. Investigation of genetic polymorphic traits in Jews. A contribution to the study of population genetics. Israel journal of medical sciences. 1973;9(9):1171-80.

Angastiniotis M, Modell B, Englezos P, Boulyjenkov V. Prevention and control of haemoglobinopathies. Bulletin of the World Health Organization. 1995;73(3):375.

Beutler E. Glucose-6-phosphate dehydrogenase deficiency. The New England journal of medicine. 1991;324(3):169-74.

Domingos IF, Hatzlhofer BL, Oliveira FB. Prevalence and molecular defect characterization of glucose-6-phosphate dehydrogenase deficiency in Brazilian blood donors. International journal of laboratory hematology. 2015;37(5):e109-11.

Beutler E. G6PD: population genetics and clinical manifestations. Blood reviews. 1996;10(1):45-52.

Kulozik A, Wainscoat J, Serjeant G. Geographical survey of βs-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. American journal of human genetics. 1986;39(2):239.

El-Hazmi MAF. Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status. Acta haematologica. 1987;78(2-3):130-4.

Eliakim R, Rachmilewitz E. Hemoglobinopathies in Israel. Hemoglobin. 1983;7(5):479-85.

Perrine RP, John P, Pembrey M, Perrine S. Sickle cell disease in Saudi Arabs in early childhood. Archives of disease in childhood. 1981;56(3):187-92.

Aluoch J, Kilinc Y, Aksoy M. Sickle cell anaemia among Eti‐Turks: haematological, clinical and genetic observations. British journal of haematology. 1986;64(1):45-55.

Campbell JJ, Oski FA. Sickle cell anemia in an American white boy of Greek ancestry. American Journal of Diseases of Children. 1977;131(2):186-8.

Deliyannis GA, Tavlarakis N. Compatibility of sickling with malaria. British medical journal. 1955;2(4934):301.

Noronha PA, Honig GR. Sickle cell anemia in two white American children: essential laboratory criteria for diagnosis. Pediatrics. 1979;63(2):242-6.

Memish ZA, Owaidah TM, Saeedi MY. Marked regional variations in the prevalence of sickle cell disease and β-thalassemia in Saudi Arabia: findings from the premarital screening and genetic counseling program. Journal of epidemiology and global health. 2011;1(1):61-8.

Almalki M, FitzGerald G, Clark M. Health care system in Saudi Arabia: an overview. EMHJ-Eastern Mediterranean Health Journal. 2011;17(10):784-93.

AlHamdan NA, AlMazrou YY, AlSwaidi FM, Choudhry AJ. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genetics in Medicine. 2007;9(6):372-7.

Coleman M, Al-Zahrani MH, Coleman M. A country on the verge of malaria elimination–the Kingdom of Saudi Arabia. PloS one. 2014;9(9):e105980.

Wood WG, Pembrey ME, Serjeant GR, Perrine RP, Weatherall DJ. Hb F synthesis in sickle cell anaemia: a comparison of Saudi Arab cases with those of African origin. British journal of haematology. 1980;45(3):431-45.

Kamel K. Heterogeneity of sickle cell anaemia in Arabs: review of cases with various amounts of fetal haemoglobin. Journal of medical genetics. 1979;16(6):428-30.

El Mouzan MI, Al Awamy BH, Al Torki MT. Clinical features of sickle cell disease in eastern Saudi Arab children. The American journal of pediatric hematology/oncology. 1990;12(1):51-5.

Al-Awamy B, Wilson WA, Pearson HA. Splenic function in sickle cell disease in the Eastern Province of Saudi Arabia. The Journal of pediatrics. 1984;104(5):714-7.

Kulozik A, Thein S, Kar B, Wainscoat J, Serjeant G, Weatherall D. Raised Hb F levels in sickle cell disease are caused by a determinant linked to the beta globin gene cluster. Progress in clinical and biological research. 1987;251:427-39.

Al-Awamy BH. Thalassemia syndromes in Saudi Arabia. Meta-analysis of local studies. Saudi medical journal. 2000;21(1):8-17.

Mehdi SR, Al Dahmash BA. A comparative study of hematological parameters of α and β thalassemias in a high prevalence zone: Saudi Arabia. Indian journal of human genetics. 2011;17(3):207.

Belhoul KM, Abdulrahman M, Alraei RF. Hemoglobinopathy carrier prevalence in the United Arab Emirates: first analysis of the Dubai Health Authority premarital screening program results. Hemoglobin. 2013;37(4):359-68.