Molecular prenatal diagnosis of alpha and beta thalassemia in pregnant Hakka women in southern China

Zhao, Pingsen; Wu, Heming; Zhong, Zhixiong; Lan, Liubing; Zeng, Mei; Lin, Hualan; Wang, Huaxian; Zheng, Zhiyuan; Su, Luxian; Guo, Wei

doi:10.1002/jcla.22306

Cited by 14 publications

(14 citation statements)

References 26 publications

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“…The results in the present study are similar to those of other studies. 37 , 38 , 39 Some genes in chromosome 16 have been associated with diseases such as thalassemia, 40 prenatal growth retardation, 41 abnormal fetal head circumference 42 and autism. 43 One study found that CNVs on chromosome 16 play an important role in the determination of developmental delay.…”

Section: Discussionmentioning

confidence: 99%

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Zhang

Huang

et al. 2021

The Journal of Gene Medicine

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Background: The present study aimed to explore the etiological relationship between miscarriage and stillbirth and copy number variations (CNVs), as well as provide useful genetic guidance for high-risk pregnancy.Methods: In total, 659 fetal samples were recruited and subjected to DNA extraction and CNV sequencing (CNV-seq), relevant medical records were collected.Results: There were 322 cases (48.86%) with chromosomal abnormalities, including 230 with numerical abnormalities and 92 with structural abnormalities. Chromosomal monosomy variations mainly occurred on sex chromosomes and trisomy variations mainly occurred on chromosomes 16, 22, 21, 18, 13 and 15. In total, 41 pathogenic CNVs (23 microdeletions and 18 microduplications) were detected in 27 fetal tissues.The rates of numerical chromosomal abnormalities were 29.30% (109/372), 32.39% (57/176) and 57.66% (64/111) in < 30-year-old, 30-34-year-old and ≥ 35-year-old age pregnant women, respectively, and increased with an increasing age (p < 0.001).There was statistically significant difference (χ 2 = 7.595, p = 0.022) in the rates of structural chromosomal abnormalities in these groups (13.71%, 18.75% and 7.21%, respectively). The rates of numerical chromosomal abnormalities were 45.44% (219/482), 7.80% (11/141) and 0% (0/36) in the ≤ 13 gestational weeks, 14-27 weeks and ≥ 28 weeks groups, respectively, and decreased with respect to the increasing gestational age of the fetuses (p < 0.001). Conclusions:The present study has obtained useful and accurate genetic etiology information that will provide useful genetic guidance for high-risk pregnancies.

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Section: Discussionmentioning

confidence: 99%

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Zhang

Huang

et al. 2021

The Journal of Gene Medicine

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“…Compared with previous studies, the higher thalassemia prevalence in Hakka population that shown in our research may be related to the selection of the subjects. [ 10 – 12 , 21 ] Most of our subjects are hospitalized patients, not random large crowd, which is also a limitation of this study. If we can effectively control of the birth of severe thalassemia in this region, it will produce huge social and economic benefits.…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China

Zhao

Weng

2018

Medicine

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Thalassemia is an inherited autosomal recessive disorder with microcytic hypochromic anemia resulting from reduced or absent synthesis of 1 or more of the globin chains of hemoglobin. This study provided the insight into prevalence and molecular characterization of thalassemia in Hakka population. 14,524 unrelated subjects were included in our study from January 2015 to November 2017. All the subjects were detected by hematological analysis, hemoglobin electrophoresis analysis, and molecular diagnosis (gap-polymerase chain reaction and flow-through hybridization technology). Data analysis was used to compare allele frequencies between the Hakka populations. Seven thousand four hundred twenty-two cases of microcytosis were found. The percentage of microcytosis in Meizhou, Ganzhou, and Heyuan was 50.91% (6738/13,236), 51.27% (445/868), and 56.90% (239/420), respectively. A total of 5516 mutant chromosomes were identified, including 3775 α-thalassemia and 1741 β-thalassemia. --SEA/αα was the most common α-thalassemia genotype, followed by -α3.7/αα and -α4.2/αα, accounted for 84.92% of α-thalassemia genotypes. Twelve kinds of mutations and 26 genotypes in β-thalassemia were found. IVS-II-654(C→T), CD41-42(-TCTT), −28(A→G), and CD17(A→T) alleles accounted for 92.65% of these mutations. IVS-II-654/N, CD41-42/N, -28/N, CD17/N genotypes accounted for 91.53% of β-thalassemia genotypes. 27 fetuses with at-risk pregnancies were subjected to prenatal diagnosis. Five fetuses were Bart's hydrops syndrome and 2 fetuses with β-thalassemia major. There were some differences in molecular characterization of thalassemia among Hakka people in different areas of southern China. Our results enriched the related information of thalassemia in the region, which provided valuable references for the prevention and control of thalassemia.

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“…However, population in different regions has their own spectrums of thalassemia (7). At present, it is reported thalassemia is widely distributed on the southern China, particularly in the provinces of Guangdong (8), Guangxi (9), and Hainan (10). Yunnan which have a high frequency of thalassemia is located in the southwestern of China at the junction of Guangxi, Guizhou, and Sichuan provinces (11).…”

Section: Introductionmentioning

confidence: 99%

Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province

et al. 2020

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Molecular prenatal diagnosis of alpha and beta thalassemia in pregnant Hakka women in southern China

Abstract: Our findings provide key information for clinical genetic counseling of prenatal diagnosis for major thalassemia in pregnant Hakka women in southern China.

Cited by 14 publications

References 26 publications

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next‐generation sequencing analysis

Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China

Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province

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