Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program" Running Title: Burden of Beta-Globin Variants in Saudi Arabia

Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program" Running Title: Burden of Beta-Globin Variants in Saudi Arabia | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program" Running Title: Burden of Beta-Globin Variants in Saudi Arabia Mansour Aljabry, Suha Sulimani, Ghazi Alotaibi, Hassan Aljabri, and 4 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-4679435/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 10 You are reading this latest preprint version Abstract Background Hemoglobinopathies are among the most prevalent inherited disorders globally, with carrier prevalence varying significantly across regions. In Saudi Arabia, high rates of consanguineous marriages amplify the risk of these disorders. Aim This study aims to assess the burden of hemoglobinopathies by evaluating the prevalence and regional distribution of beta-hemoglobin variants, including rare variants, among couples participating in the national premarital screening program. Methods Data were collected from the premarital genetic screening program and entered into the SEHA platform, covering the 13 administrative regions of Saudi Arabia. Blood samples underwent various screening tests for infectious and genetic diseases. Hemoglobin electrophoresis samples were analyzed using capillary electrophoresis, High-Performance Liquid Chromatography (HPLC), or a combination of both methods. Results From 2011 to 2018, 1,871,184 individuals were enrolled in the study, with 49.8% male and 50.2% female. The average age was 30.2 years. Hemoglobin S (HbS) was identified in 88,431 individuals (4.7% of the tested population and 78.5% of abnormal screening results), primarily as a sickle cell trait. β-thalassemia was the second most common disorder, identified in 22,420 individuals (1.2% of the population and 19.9% of hemoglobin disorders). Rare variants such as HbO-Arab, HbD, HbG, HbC, HbE, and Hb Lepore were infrequently detected. Conclusion The study demonstrates regional variation in the prevalence of hemoglobin genetic variants in Saudi Arabia. Enhancing public education and awareness, particularly focusing on genetic screening and counseling, is crucial to mitigate this risk. Genetic variants Hemoglobinopathies Pre-marital screening Full Text Additional Declarations No competing interests reported. Cite Share Download PDF Status: Under Review Version 1 posted Editorial decision: Revision requested 19 Jul, 2024 Reviews received at journal 18 Jul, 2024 Reviews received at journal 10 Jul, 2024 Reviewers agreed at journal 08 Jul, 2024 Reviewers agreed at journal 08 Jul, 2024 Reviewers agreed at journal 06 Jul, 2024 Reviewers invited by journal 06 Jul, 2024 Editor assigned by journal 06 Jul, 2024 Submission checks completed at journal 05 Jul, 2024 First submitted to journal 03 Jul, 2024 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-4679435","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":329130680,"identity":"5b92927b-6b9c-4da2-a1bf-6fedcc054dfd","order_by":0,"name":"Mansour 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Arabia","fulltext":[],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":true,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"journal-of-epidemiology-and-global-health","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"","sideBox":"Learn more about [Journal of Epidemiology and Global Health](https://www.springer.com/journal/44197)","snPcode":"44197","submissionUrl":"https://submission.nature.com/new-submission/44197/3","title":"Journal of Epidemiology and Global Health","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Open","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Genetic variants, Hemoglobinopathies, Pre-marital screening","lastPublishedDoi":"10.21203/rs.3.rs-4679435/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-4679435/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eBackground\u003c/h2\u003e \u003cp\u003eHemoglobinopathies are among the most prevalent inherited disorders globally, with carrier prevalence varying significantly across regions. In Saudi Arabia, high rates of consanguineous marriages amplify the risk of these disorders.\u003c/p\u003e\u003ch2\u003eAim\u003c/h2\u003e \u003cp\u003eThis study aims to assess the burden of hemoglobinopathies by evaluating the prevalence and regional distribution of beta-hemoglobin variants, including rare variants, among couples participating in the national premarital screening program.\u003c/p\u003e\u003ch2\u003eMethods\u003c/h2\u003e \u003cp\u003eData were collected from the premarital genetic screening program and entered into the SEHA platform, covering the 13 administrative regions of Saudi Arabia. Blood samples underwent various screening tests for infectious and genetic diseases. Hemoglobin electrophoresis samples were analyzed using capillary electrophoresis, High-Performance Liquid Chromatography (HPLC), or a combination of both methods.\u003c/p\u003e\u003ch2\u003eResults\u003c/h2\u003e \u003cp\u003eFrom 2011 to 2018, 1,871,184 individuals were enrolled in the study, with 49.8% male and 50.2% female. The average age was 30.2 years. Hemoglobin S (HbS) was identified in 88,431 individuals (4.7% of the tested population and 78.5% of abnormal screening results), primarily as a sickle cell trait. β-thalassemia was the second most common disorder, identified in 22,420 individuals (1.2% of the population and 19.9% of hemoglobin disorders). Rare variants such as HbO-Arab, HbD, HbG, HbC, HbE, and Hb Lepore were infrequently detected.\u003c/p\u003e\u003ch2\u003eConclusion\u003c/h2\u003e \u003cp\u003eThe study demonstrates regional variation in the prevalence of hemoglobin genetic variants in Saudi Arabia. Enhancing public education and awareness, particularly focusing on genetic screening and counseling, is crucial to mitigate this risk.\u003c/p\u003e","manuscriptTitle":"Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program\" Running Title: Burden of Beta-Globin Variants in Saudi Arabia","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2024-07-30 13:33:28","doi":"10.21203/rs.3.rs-4679435/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2024-07-19T11:46:13+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2024-07-18T07:01:58+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2024-07-10T11:46:04+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"37754842902530797491966362522098050464","date":"2024-07-08T08:34:59+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"27596894820103156898558274903916836083","date":"2024-07-08T04:13:35+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"5062635021177073260917531264753260831","date":"2024-07-06T15:22:16+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2024-07-06T07:42:28+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2024-07-06T07:39:22+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2024-07-05T11:39:02+00:00","index":"","fulltext":""},{"type":"submitted","content":"Journal of Epidemiology and Global Health","date":"2024-07-03T09:52:59+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"journal-of-epidemiology-and-global-health","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"","sideBox":"Learn more about [Journal of Epidemiology and Global Health](https://www.springer.com/journal/44197)","snPcode":"44197","submissionUrl":"https://submission.nature.com/new-submission/44197/3","title":"Journal of Epidemiology and Global Health","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Open","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"fc6a680f-70a2-4e28-bcff-4b3aa48766f6","owner":[],"postedDate":"July 30th, 2024","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2024-07-30T13:33:28+00:00","versionOfRecord":[],"versionCreatedAt":"2024-07-30 13:33:28","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-4679435","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-4679435","identity":"rs-4679435","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}