{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T12:10:35Z","timestamp":1785499835654,"version":"3.56.0"},"reference-count":27,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2012,2,29]]},"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate the significance of non-deletional \u03b1 gene variants identified in neonates during newborn screening for sickle cell disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>1534 newborn babies were screened in the last 2\u2005years for sickle cell disease using a targeted screening approach. Investigations included a complete blood count, high performance liquid chromatography analysis, cellulose acetate electrophoresis (pH 8.9), heat stability test, restriction digestion and Amplified Refractory Mutation System for confirmation of sickle haemoglobin (Hb S), \u03b1 genotyping by multiplex PCR and DNA sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Three non-deletional \u03b1 gene variants, Hb Fontainebleau, Hb O Indonesia and Hb Koya Dora, were identified in heterozygous condition in newborns. This is the first report of Hb Fontainebleau in association with Hb S. The baby had anaemia at birth (Hb 11.4\u2005g\/dl) with no cyanosis, icterus or need for transfusion. She had occipital encephalocoele and was operated on day 24 to remove the mass. The baby diagnosed with Hb O Indonesia in combination with Hb S also had a low haemoglobin level of 12.7\u2005g\/dl.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Newborn screening for sickle cell disorders also enabled us to identify three \u03b1 globin chain variants. Two babies who inherited Hb Fontainebleau and Hb O Indonesia along with Hb S had reduced Hb levels at birth and need to be followed up.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jclinpath-2011-200642","type":"journal-article","created":{"date-parts":[[2012,3,29]],"date-time":"2012-03-29T23:18:05Z","timestamp":1333063085000},"page":"654-659","source":"Crossref","is-referenced-by-count":17,"title":["First case of Hb Fontainebleau with sickle haemoglobin and other non-deletional \u03b1 gene variants identified in neonates during newborn screening for sickle cell disorders"],"prefix":"10.1136","volume":"65","author":[{"given":"Dipti S","family":"Upadhye","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dipty","family":"Jain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sona B","family":"Nair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita H","family":"Nadkarni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanjaksha","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshan B","family":"Colah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,3,29]]},"reference":[{"key":"2025120521111016000_65.7.654.1","unstructured":"Sukumaran PK . 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