{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:38:20Z","timestamp":1787618300694,"version":"build-2736575974"},"reference-count":61,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,11,29]],"date-time":"2018-11-29T00:00:00Z","timestamp":1543449600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2019,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The hemoglobinopathies pose a significant health burden in India. Apart from the \u03b2 thalassemias and sickle cell disorders, \u03b1 thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15\u00a0years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Screening for hemoglobinopathies was done using HPLC and cellulose acetate electrophoresis. Molecular characterization was done using Covalent Reverse Dot Blot Hybridization (CRDB), Amplification Refractory Mutation System (ARMS), GAP PCR and direct DNA sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The study includes 31\u00a0075 individuals who were referred for diagnosis of hemoglobinopathies and prenatal diagnosis. Of these 14\u00a0423 individuals showed various hemoglobin abnormalities. Beta genotyping in 5615 individuals showed the presence of 49 \u03b2 thalassemia mutations. 143 \u03b2 thalassemia heterozygotes had normal or borderline HbA<jats:sub>2<\/jats:sub> levels. We identified three \u03b4 gene mutations (HbA<jats:sub>2<\/jats:sub> Pellendri, HbA<jats:sub>2<\/jats:sub> St.George, HbA<jats:sub>2<\/jats:sub> Saurashtra) in \u03b2 thalassemia heterozygotes leading to normal HbA<jats:sub>2<\/jats:sub> levels. The commonest defects among the raised Hb F determinants were G\u03b3(\u0391\u03b3\u03b4\u03b2)<jats:sup>0<\/jats:sup> Indian inversion and the HPFH\u20103 Indian deletion. A total of 312 individuals showed the presence of \u03b1 thalassemia, of which 12.0% had a single \u03b1 gene deletion (\u2212\u03b1\/\u03b1\u03b1). HbH disease was identified in 29 cases with 10 different genotypes. Alpha globin gene triplication was seen in 2.1% of \u03b2 thalassemia heterozygotes with a thalassemia intermedia phenotype. Seven unusual \u03b1 chain variants and eight uncommon \u03b2 chain variants were identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The repertoire of molecular defects seen in the different globin genes will be valuable for management and control of these disorders both in India as well as in other countries where there is a huge influx of migrant populations from India.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.12948","type":"journal-article","created":{"date-parts":[[2018,11,29]],"date-time":"2018-11-29T16:24:48Z","timestamp":1543508688000},"page":"218-226","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15\u00a0years at a referral center"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6039-924X","authenticated-orcid":false,"given":"Anita 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