{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T14:45:55Z","timestamp":1767278755259,"version":"3.48.0"},"reference-count":71,"publisher":"Scientific Scholar","content-domain":{"domain":["ijmr.org.in"],"crossmark-restriction":true},"short-container-title":["Indian J Med Res"],"abstract":"<jats:sec>\n                    <jats:title>Background &amp; objectives<\/jats:title>\n                    <jats:p>Sickle cell anaemia (SCA) is a serious inherited blood disorder caused by mutations in the \u03b2-globin gene, leading to abnormal haemoglobin (HbS). Understanding the genetic diversity of SCA is important for improving diagnosis, treatment, and public health planning. Our aim was to systematically review and summarise the genetic variations associated with SCA in various populations, and to explore how these differences affect clinical outcomes and inform public health responses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A systematic search was conducted across databases, including PubMed, Scopus, Cochrane, and Science Direct, for studies published between 1990 and 2025. A total of 62 studies were included, covering populations with a high prevalence of haemoglobinopathies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Significant genetic heterogeneity was identified. Common coinherited conditions included \u03b1- and \u03b2-thalassaemia, particularly in Saudi Arabia, Iran, and Sub-Saharan Africa, influencing haemoglobin levels and disease severity. Specific \u03b2S haplotypes (\n                      <jats:italic>e.g<\/jats:italic>\n                      . Benin, Bantu, Senegal) were regionally dominant, with some (\n                      <jats:italic>e.g<\/jats:italic>\n                      . Senegal) linked to higher foetal haemoglobin levels and milder symptoms. Genetic modifiers such as\n                      <jats:italic>BCL11A<\/jats:italic>\n                      and\n                      <jats:italic>MYH9<\/jats:italic>\n                      variants were also found to affect disease expression. Public health screening programmes in countries like the UAE and India have achieved high coverage, but diagnostic and treatment challenges persist due to ongoing genetic and environmental variation. The Quantitative findings include regional dominance of \u03b2S haplotypes: Benin (29%), Bantu (3%), Senegal (1%), with the Senegal haplotype linked to higher foetal haemoglobin (HbF) levels (average 14.6%) and the Arab Indian haplotype (6.7%). Co-inheritance of \u03b2-thalassaemia was notably common in Saudi Arabia, Iran, and Sub-Saharan Africa.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretations &amp; conclusions<\/jats:title>\n                    <jats:p>Tailored, genomically informed public health strategies are needed to address the diverse genetic landscape of SCA. Clinicians should incorporate genetic profiling and culturally appropriate counselling to improve care in affected populations. Variability in study design, sample size, and genetic reporting limited the ability to perform direct comparisons across regions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.25259\/ijmr_1288_2025","type":"journal-article","created":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T14:40:54Z","timestamp":1767278454000},"page":"593-631","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic patterns &amp; public health implications of sickle cell anaemia across populations: A systematic review"],"prefix":"10.25259","volume":"162","author":[{"given":"Manisha","family":"Shrivastava","sequence":"first","affiliation":[{"name":"Department of Transfusion Medicine, Bhopal Memorial Hospital and Research Centre, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashmi","family":"Bathri","sequence":"additional","affiliation":[{"name":"Department of Transfusion Medicine, Bhopal Memorial Hospital and Research Centre, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naseema","family":"Shafqat","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Nursing, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saikat","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, 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