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

Alpha 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 hist...

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Autori principali:	Kainaz Sidhwa, Manisha Ramani Daruwalla, Ravikiran Pawar, Anita Nadkarni, Priya Hariharan, Pallavi Mehta, Amar Das Gupta
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wolters Kluwer Medknow Publications 2019-01-01
Serie:	Indian Journal of Pathology and Microbiology
Soggetti:	Alpha globin gene variants antenatal screening co-inheritance of alpha and beta globin chain variants HbQ India Hemoglobin Fontainebleau
Accesso online:	http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=2;spage=323;epage=325;aulast=Sidhwa
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