Thalassemia Reports (Aug 2013)

Two rare hemoglobin variants with α thalassemia in Eastern Indian population

  • Dipanwita Das,
  • Nandini Chattopadhyay,
  • Arghya Mukherjee,
  • Dhrubajyoti Chattopadhyay,
  • Prantar Chakrabarti,
  • Utpal Chaudhuri,
  • Sila Chakrabarti

DOI
https://doi.org/10.4081/thal.2013.e4
Journal volume & issue
Vol. 3, no. 1
pp. e4 – e4

Abstract

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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 αααanti3.7 triplication indicates a possible cause for the clinical severity in b-thalassemia carriers. 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。

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