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Article

Two Rare Hemoglobin Variants with α Thalassemia in Eastern Indian Population

by
Dipanwita Das
1,
Nandini Chattopadhyay
1,
Arghya Mukherjee
2,
Dhrubajyoti Chattopadhyay
2,
Prantar Chakrabarti
1,
Utpal Chaudhuri
1 and
Sila Chakrabarti
1,*
1
Institute of Haematology and Transfusion Medicine, Medical College, Kolkata
2
Department of Biotechnology, B.C. Guha Centre for Genetic Engineering, Biotechnology University of Calcutta, Kolkata, India
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2013, 3(1), e4; https://doi.org/10.4081/thal.2013.e4
Submission received: 9 November 2012 / Accepted: 12 March 2013 / Published: 13 August 2013

Abstract

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 β-thalassemia carriers.
Keywords: hemoglobin (Hb) Hofu; Hb Grange- Blanche; α-thalassemia; Eastern India; highpressure liquid chromatography; β-globin gene; direct DNA sequencing hemoglobin (Hb) Hofu; Hb Grange- Blanche; α-thalassemia; Eastern India; highpressure liquid chromatography; β-globin gene; direct DNA sequencing

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MDPI and ACS Style

Das, D.; Chattopadhyay, N.; Mukherjee, A.; Chattopadhyay, D.; Chakrabarti, P.; Chaudhuri, U.; Chakrabarti, S. Two Rare Hemoglobin Variants with α Thalassemia in Eastern Indian Population. Thalass. Rep. 2013, 3, e4. https://doi.org/10.4081/thal.2013.e4

AMA Style

Das D, Chattopadhyay N, Mukherjee A, Chattopadhyay D, Chakrabarti P, Chaudhuri U, Chakrabarti S. Two Rare Hemoglobin Variants with α Thalassemia in Eastern Indian Population. Thalassemia Reports. 2013; 3(1):e4. https://doi.org/10.4081/thal.2013.e4

Chicago/Turabian Style

Das, Dipanwita, Nandini Chattopadhyay, Arghya Mukherjee, Dhrubajyoti Chattopadhyay, Prantar Chakrabarti, Utpal Chaudhuri, and Sila Chakrabarti. 2013. "Two Rare Hemoglobin Variants with α Thalassemia in Eastern Indian Population" Thalassemia Reports 3, no. 1: e4. https://doi.org/10.4081/thal.2013.e4

APA Style

Das, D., Chattopadhyay, N., Mukherjee, A., Chattopadhyay, D., Chakrabarti, P., Chaudhuri, U., & Chakrabarti, S. (2013). Two Rare Hemoglobin Variants with α Thalassemia in Eastern Indian Population. Thalassemia Reports, 3(1), e4. https://doi.org/10.4081/thal.2013.e4

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