Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family.

The α-thal deletion of 3.557 kb (NG_000006.1: g.

Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China.

The aim of the present study was to find the most prevalent structural hemoglobin (Hb) variants in southern China and to present hematological and molecular data of abnormal Hbs in the population from southern China. The type and frequency of structural Hb variants and their hematological and molecular characteristics were identified in 131 individuals from 30,848 unrelated partners who were referred to the prenatal clinic of Dongguan Maternal & Children Health Hospital, Dongguan, Guangdong, People's Republic of China (PRC) from 2011 to 2013. α-Globin or β-globin chain variants were screened using a capillary electrophoresis (CE) system, and α-globin or β-globin gene mutations were confirmed using sequencing techniques.

Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals.

Background: The "gray zone" of borderline hemoglobin A2 (Hb A2) may be present in a large section of the population, especially in countries where thalassemia is common. However, very little is currently known of the molecular basis of borderline Hb A2 in Chinese individuals.

Method: In this study, we performed a comprehensive analysis of the globin genotypes and KLF1 gene mutations associated with borderline Hb A2 in 165 Chinese subjects.