Diagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential effects in her children in view of multiple globin gene defects in her husband

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dc.contributor.authorSidhwa, Ken_US
dc.contributor.authorDaruwalla, MRen_US
dc.contributor.authorPawar, Ren_US
dc.contributor.authorNadkarni, Aen_US
dc.contributor.authorHariharan, Pen_US
dc.contributor.authorMehta, Pen_US
dc.contributor.authorGupta, ADen_US
dc.date.accessioned2020-04-10T01:50:09Z
dc.date.available2020-04-10T01:50:09Z
dc.date.issued2019-06
dc.description.abstractAlpha globin chain variants per se do not cause severe morbidity and mortality but can modify – usually ameliorate – the clinical manifestations of beta globin chain variants when co-inherited with the latter. They also pose challenges in interpretation of high-performance liquid chromatography histograms and require molecular analysis for proper characterization. Hemoglobin (Hb) Fontainebleau is a rare alpha globin chain variant [alpha 21(B2) Ala?Pro], of which only three families have been reported from India in the past. Here, we describe a case of Hb fontainebleau detected in heterozygous condition in a 19-year-old primigravida. Her husband was found to have a double heterozygous state for HbQ India and beta-thalassemia trait. This opens up the possibility of multiple combinations of hemoglobinopathies in the offspring.en_US
dc.identifier.affiliationsDepartment of Hematology, Central Reference Laboratory, SRL Limited, Mumbai, Maharashtra, Indiaen_US
dc.identifier.affiliationsDepartment of Hematogenetics, National Institute of Immunohematology, Mumbai, Maharashtra, Indiaen_US
dc.identifier.citationSidhwa K, Daruwalla MR, Pawar R, Nadkarni A, Hariharan P, Mehta P, Gupta AD. Diagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential effects in her children in view of multiple globin gene defects in her husband. Indian Journal of Pathology and Microbiology. 2019 Jun; 62(2): 323-325en_US
dc.identifier.issn0377-4929
dc.identifier.issn0974-5130
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/196348
dc.languageenen_US
dc.publisherIndian Association of Pathologists and Microbiologistsen_US
dc.relation.issuenumber2en_US
dc.relation.volume62en_US
dc.source.urihttps://dx.doi.org/10.4103/IJPM.IJPM_218_18en_US
dc.subjectAlpha globin gene variantsen_US
dc.subjectantenatal screeningen_US
dc.subjectco-inheritance of alpha and beta globin chain variantsen_US
dc.subjectHbQ Indiaen_US
dc.subjectHemoglobin Fontainebleauen_US
dc.titleDiagnostic challenges posed by a rare alpha globin chain variant Hb Fontainebleau in a pregnant female and its potential effects in her children in view of multiple globin gene defects in her husbanden_US
dc.typeJournal Articleen_US
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