Publication:
Compound heterozygosity for α<sup>0</sup>-thalassemia (--<sup>THAI</sup>) and Hb constant spring causes severe Hb H disease

1

Issued Date

2002-07-27

Resource Type

Article

ISSN

03630269

DOI

10.1081/HEM-120005453

Other identifier(s)

2-s2.0-0036062574

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Hemoglobin. Vol.26, No.2 (2002), 155-162

Suggested Citation

Vip Viprakasit, Voravarn S. Tanphaichitr Compound heterozygosity for α<sup>0</sup>-thalassemia (--<sup>THAI</sup>) and Hb constant spring causes severe Hb H disease. Hemoglobin. Vol.26, No.2 (2002), 155-162. doi:10.1081/HEM-120005453 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/20056

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Title

Compound heterozygosity for α<sup>0</sup>-thalassemia (--<sup>THAI</sup>) and Hb constant spring causes severe Hb H disease

Author(s)

Vip Viprakasit
 Voravarn S. Tanphaichitr

Other Contributor(s)

John Radcliffe Hospital
 Mahidol University

Abstract

We report two unrelated cases of Hb H-Constant Spring (Hb H-CS) disease caused by a compound heterozygosity for α0-thalassemia (--THAIdeletion) and Hb CS (α142, TAA→CAA) in Thai patients. Hematological and clinical observations in the probands are more severe than those of deletional type of Hb H disease (--/-α), owing to an early onset of anemia and recurrent episode of anemic crises. These cases also address the importance of the --THAIdeletion which causes a severe clinical phenotype, and that could be missed by routine screening. We suggest that testing for this mutation should be included in the screening program for the prevention and control of thalassemia in Thailand, and possibly in other countries in Southeast Asia, where α0-thalassemias are highly prevalent.

Keyword(s)

Biochemistry, Genetics and Molecular Biology
 Medicine

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URI

https://repository.li.mahidol.ac.th/handle/123456789/20056

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Scopus 2001-2005