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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 2
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Analysis of the rs35959442 Polymorphism in Hb E/β-Thalassemia in Guangxi Province of the Republic of China

Yunyan HeDepartment of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, Republic of China
,
Ping ChenMedical Laboratory Center of Guangxi Medical University, Nanning, Guangxi, Republic of China
,
Weixiong LinMedical Laboratory Center of Guangxi Medical University, Nanning, Guangxi, Republic of China
&
Jianming LuoDepartment of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, Republic of ChinaCorrespondence[email protected]
Pages 166-169 | Received 08 May 2011, Accepted 08 Sep 2011, Published online: 22 Dec 2011
 
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Abstract

Hb E [β26(B8)Glu→Lys]/β-thalassemia (β-thal) is a worldwide inherited disorder. We determined the phenotype of 65 unrelated Hb E/β-thal subjects and 70 healthy individuals in the Guangxi Province of the Republic of China (ROC). Single nucleotide polymorphism (SNP) rs35959442 in HBS1L analysis was performed using the polymerase chain reaction (PCR)/restriction enzyme method. The data suggested that the frequency of the rs35959442 polymorphism was relatively high in patients with Hb E/β-thal in Guangxi Province, ROC, when associated with Hb F augmentation.

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