First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families

Cuize Yaoa Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of ChinaView further author information

Danqing Qina Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of ChinaView further author information

Jicheng Wanga Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of ChinaView further author information

Xiuqin Baoa Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of ChinaView further author information

Jie Lianga Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of ChinaView further author information

Li Dua Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;b Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of China;c Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, People’s Republic of ChinaCorrespondence[email protected]
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Figures & data

Figure 1. Pedigrees of the families participating in this study.

Table 1. Hematological and molecular data from families in this study.

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Figure 2. Capillary electrophoresis results of the probands in the two families. a. Hb Val de Marne is characterized by incomplete separation of an abnormal peak from the Hb A peak; b: Hb Dongguan is characterized by an anomalous peak at zone 11.

Figure 3. Sequencing result of the α-globin genes. a. Reverse sequencing result of the HBA2 gene in the proband. The arrow indicates the A > C heterozygous mutation substitution at codon 133 [α133(H16) Ser > Arg (AGC > CGC); HBA2: c.400A > C]. b. Forward sequencing result of the HBA1 gene in the proband. The arrow indicates the A > C heterozygous mutation substitution at codon 52 [α52(E6) Ser > Cys (TCT > TGT); HBA1: c.158C > G].

Table 2. Hematological and molecular data from families in this study and related references.

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First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families

Table 1. Hematological and molecular data from families in this study.

Table 2. Hematological and molecular data from families in this study and related references.

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First study to describe a novel HbA2: c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families

Figures & data

Table 1. Hematological and molecular data from families in this study.

Table 2. Hematological and molecular data from families in this study and related references.

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