Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India.

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dc.contributor.authorSingh Mashon, Ranjeet
dc.contributor.authorNair, Sona
dc.contributor.authorSawant, Pratibha
dc.contributor.authorColah, Roshan B
dc.contributor.authorGhosh, Kanjaksha
dc.contributor.authorDas, Sheila
dc.date.accessioned2015-03-05T06:14:15Z
dc.date.available2015-03-05T06:14:15Z
dc.date.issued2013-07
dc.description.abstractStructural hemoglobin (Hb) variants are mainly due to point mutations in the globin genes resulting in single amino acid substitutions. Until date, about 200 alpha chain variants have been identified and they are usually detected during the hemoglobinopathy screening programs. Under a community control program for hemoglobinopathies, which involved screening of antenatal cases followed by prenatal diagnosis if indicated. Here, we report a rare alpha globin gene variant Hb Fontainebleau [a21(B2)Ala>Pro] detected in the heterozygous condition in a 35‑year‑old pregnant lady screened during this program. This is the second report of this alpha globin variant from India. Unlike the earlier case from India where Hb Fontainebleau was reported in a neonate who was also a carrier of Hb Sickle and had no clinical problems, this case presented with a bad obstetric history associated with the secondary infertility. However, the presence of the variant and the obstetric complications may be unrelated.en_US
dc.identifier.citationSingh Mashon Ranjeet, Nair Sona, Sawant Pratibha, Colah Roshan B, Ghosh Kanjaksha, Das Sheila. Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 352-354.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/156591
dc.language.isoenen_US
dc.source.urihttps://www.ijhg.com/article.asp?issn=0971-6866;year=2013;volume=19;issue=3;spage=352;epage=354;aulast=Mashonen_US
dc.subjectAlpha globin gene varianten_US
dc.subjecthemoglobin Fontainebleauen_US
dc.subjectinfertilityen_US
dc.subject.meshAdult
dc.subject.meshFemale
dc.subject.meshHemoglobins, Abnormal --complications
dc.subject.meshHemoglobins, Abnormal --diagnosis
dc.subject.meshHemoglobins, Abnormal --epidemiology
dc.subject.meshHemoglobins, Abnormal --genetics
dc.subject.meshIndia --epidemiology
dc.subject.meshInfertility, Female --etiology
dc.subject.meshalpha-Globins --genetics
dc.titleHemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India.en_US
dc.typeArticleen_US
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