Two rare hemoglobin variants with α thalassemia in Eastern Indian population

<p>The current work focuses on two rare hemoglobin (Hb) variants - Hb Grange-Blanche and Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis throws light on importance of multiple muta...

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Bibliographic Details
Main Authors: Dipanwita Das, Nandini Chattopadhyay, Arghya Mukherjee, Dhrubajyoti Chattopadhyay, Prantar Chakrabarti, Utpal Chaudhuri, Sila Chakrabarti
Format: Article
Language:English
Published: MDPI AG 2013-08-01
Series:Thalassemia Reports
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Online Access:http://www.pagepressjournals.org/index.php/thal/article/view/681
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Summary:<p>The current work focuses on two rare hemoglobin (Hb) variants - Hb Grange-Blanche and Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis throws light on importance of multiple mutations and its coinheritance with ααα<sup>anti3.7</sup> triplication indicates a possible cause for the clinical severity in b-thalassemia carriers.</p><p> </p><p>目前的工作聚焦点在于两种稀有的血红蛋白(Hb)变异体:Grange-Blanche血红蛋白和Hofu血红蛋白,它们与α-地中海贫血症一同在印度东部被首次发现。Grange-Blanche血红蛋白和在独联体发现的FS 41/42(-CTTT)突变体的特殊情况,阐明了多元突变,其继承性及αααanti3.7在临床可能表现出严重β-地中海贫血症状的重要性。</p>
ISSN:2039-4357
2039-4365