Hindawi BioMed Research International Volume 2020, Article ID 1509501, 15 pages https://doi.org/10.1155/2020/1509501 Research Article Epidemiology of Thalassemia in Gulf Cooperation Council Countries: A Systematic Review Amani Abu-Shaheen ,1 Humariya Heena,1 Abdullah Nofal,2 Doaa A. Abdelmoety,3 Abdulrahman Almatary,4 Mohammed Alsheef,5 and Isamme AlFayyad1 1Research Center, King Fahad Medical City, Riyadh, Saudi Arabia 2Emergency Medicine Department, King Saud University Medical City, Riyadh, Saudi Arabia 3Clinical Research Management Department, Executive Administration of Research, King Abdullah Medical City in Holy Capital, Makkah, Saudi Arabia 4Neonatal Intensive Care Unit, King Fahad Medical City, Children Specialized Hospital, Riyadh, Saudi Arabia 5Internal Medicine Consultant, King Fahad Medical City, Riyadh, Saudi Arabia Correspondence should be addressed to Amani Abu-Shaheen; [email protected] Received 17 May 2020; Revised 15 September 2020; Accepted 20 October 2020; Published 29 October 2020 Academic Editor: Mittal Suneeta Copyright © 2020 Amani Abu-Shaheen et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background. Thalassemia has a burden on the healthcare systems of many countries. About 56000 conceptions result in thalassemia, globally. Objective. To assess the epidemiological profile of thalassemia in the Gulf Cooperation Council (GCC) countries. Methods. A systematic search was conducted in MEDLINE/PubMed (National Library of Medicine), CINAHL, and Embase. Relevant observational studies reporting the epidemiology of thalassemia among the GCC population were selected. Data on the prevalence, frequency, and complications of thalassemia were extracted. The quality of the retrieved studies was assessed according to the Newcastle–Ottawa Quality Assessment Scale. Results. Eighteen studies (14 cross-sectional studies, two retrospective observational studies, and two retrospective analysis) with a total of 3343042 participants were included in this systematic review. Of the 18 studies, 11 studies were conducted in Saudi Arabia, two in the Kingdom of Bahrain, one in Kuwait, three in the United Arab Emirates (UAE), and one in Qatar. The prevalence of thalassemia among children below five years of age ranged from 0.25% to 33%, while it was 0.9% in children above five years and from 0.035% to 43.3% among adult thalassemia patients. The most-reported risk factors were consanguineous marriage and high-risk marriage. There was a lack of data regarding mortality rates in thalassemia. Conclusions. Despite the premarital screening and genetic counseling (PMSGC) program for thalassemia, the incidence of high-risk couple marriages in GCC countries cannot be effectively diminished. This study suggested that the PMSGC program should adopt more attention for the high-risk areas, to enhance the level of consciousness about the hemoglobinopathy diseases and the consequences of consanguinity among the at-risk couple. 1. Background two defective globin genes, one from each parent, and thalas- semia minor occurs when the child inherits one defective glo- Thalassemia is a genetic blood disorder in which the body bin gene from only one parent [2, 3]. One of the most- produces an abnormal form of hemoglobin. There are two reported risk factors of thalassemia is consanguineous mar- types of thalassemia, depending on which type of globin is riage. Consanguineous marriage is the marriage of two indi- mutated: alpha- (α-) thalassemia and beta- (β-) thalassemia. viduals having connections as second cousins with the α-Thalassemia occurs when one or more of the four α-globin inbreeding coefficient > 0 · 0156. The inbreeding coefficient genes are damaged or altered, while β-thalassemia occurs is a method to measure the proportion of loci where the off- when both β-globin genes are damaged or mutated [1]. Fur- spring of consanguineous marriage is predicted to receive thermore, thalassemia major occurs when a child inherits identical gene copies from both parents [4, 5]. 2 BioMed Research International Patients with thalassemia minor show no manifestations quate measures, which appears to restrict early thalassemia and can have a healthy life without treatment, whereas symptoms [14–17]. Due to the therapeutic advances, the patients with thalassemia major usually experience lifelong major thalassemia patients experienced an increased life anemia that begins in early childhood, and due to the abnor- expectancy, and the disease changed from a deadly disorder mality of the red blood cells, the patient must be managed to chronic disease with a need for lifetime care [18–20]. with regular blood transfusions [1]. Homozygous α-thalasse- The lifetime care of thalassemia major patient is costly, and mia occurs due to the deletion of all four α-globin genes. β- it includes the cost of (1) blood transfusion and iron chela- Thalassemia phenotypes are heterogeneous, varying between tion medications, (2) laboratory investigations, (3) manage- severe transfusion-dependent thalassemia major to the mild ment of adverse events, (4) recurrent visits, and (5) indirect thalassemia intermedia form. Patients with β-thalassemia expenses such as the costs of missed chances and quality of major develop severe anemia and hepatosplenomegaly, and life [16, 21, 22]. the children with this condition, if not treated, show develop- Some studies were conducted to assess the management mental delay and reduced life expectancy [3]. Previously α- of thalassemia expenses. In the United Kingdom, Karnon thalassemia disorders were thought to be benign; however, et al. stated that the discounted lifetime cost of managing a homozygous α-thalassemia has been found currently to be β-thalassemia major patient was estimated to be 188000 to fatal and commonly detected in populations worldwide [1, 226000 pounds [23]. While in Thailand, Riewpaiboon et al. 6]. Homozygous α-thalassemia results in Hb Barts formation recruited 201 patients and documented that the yearly aver- in utero. Due to the extremely high affinity of Hb Barts, little age management cost was 950 United States dollars (US$), oxygen is delivered to fetal tissues causing severe hypoxia, among which 59% was direct medical cost, 17% direct non- cardiac failure, and intrauterine death of the fetus [6, 7]. In medical cost, and 24% indirect cost [24]. the case of homozygous α-thalassemia, early detection This article is aimed at systemically reviewing the epide- followed by intrauterine transfusion can prevent fetal death, miological profile represented by the frequency, prevalence, but the transfusion therapy requires to be continued [6]. risk factors, mortality rates, and complications of thalassemia The management of thalassemia requires high bloodstock, in GCC countries that will help in the development of a con- which highly consumes blood at the expense of other sensus on newborn screening programs and strategies that treatments that requires a blood transfusion, and it causes may reduce the mortality of newborn due to thalassemia. significant complications such as iron overload, bone Moreover, it will help in improving the clinical outcomes distortions, and cardiovascular disorders due to lifelong and quality of life for thalassemia patients. blood transfusion [6, 7]. About 56000 conceptions result in thalassemia, globally. 2. Methods Of them, approximately 30000 are affected by β-thalassemia, and around 3500 succumb perinatally from the hydrops This systematic review was based on the Preferred Reporting fetalis or α-thalassemia syndrome [1]. Moreover, it was esti- Items for Systematic Review and Meta-analysis (PRISMA) mated that annually, about nine million thalassemia carrier statement [25], and all steps were performed according to women around the world get pregnant, and of them, 1.33 the Cochrane Handbook [26]. million pregnancies are at risk for major thalassemia disorder [1, 8, 9]. Thalassemia has a burden on the healthcare systems 2.1. Literature Search Strategy. An electronic database search of many countries in the Mediterranean area, the Middle was conducted through MEDLINE/PubMed (National Eastern and North African areas (MENA), Central Asia, Library of Medicine), CINAHL, and Embase for relevant Transcaucasia, the Indian subcontinent, and Southeast Asia published studies from the beginning until December 31, [6, 7]. The α-thalassemia gene frequencies are found to be 2018. The leading search criterion was the appearance of higher than β-thalassemia, and in the regions in Southeast the term thalassemia in GCC countries. We combined other Asia, the frequency of α-thalassemia reached 25% [6, 7]. On terms of hemoglobinopathies, such as sickle cell trait, sickle the other hand, the countries in the MENA region, particu- cell disease, and sickle cell hemoglobin, so that we did not larly UAE and other Gulf Cooperation Council (GCC) coun- miss any study, including thalassemia. The search strategy fi tries, the prevalence of β-thalassemia major and carriers is is shown in the supplementary (S1) le. higher than α-thalassemia [1]. 2.2. Eligibility Criteria Many countries have measured the knowledge and the attitudes of the public towards thalassemia to implement 2.2.1. Inclusion Criteria. Observational studies on population and evaluate relevant educational programs [10, 11]. Assess- diagnosed with thalassemia in GCC countries and studies ment of the population’s