Molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province, China

Abstract

To detect the molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province of China.We recruited 10,285 subjects who were screened for hemoglobin (Hb) variants and thalassaemia genotypes in the outpatient department of Yuebei People's Hospital from January 2018 to December 2020. The subjects collected venous blood samples for blood cell parameter analysis and Hb electrophoresis analysis. When the average red blood cell volume is <82 fL, or the average red blood cell Hb is <27 pg, or HbA2 > 3.5%, or HbA2 < 2.5%, or HbF > 2.0%, the screening is positive if one of them is satisfied. All subjects who were screened positive were tested for the thalassaemia gene by gap-polymerase chain reaction, PCR-based reverse dot blot, and DNA sequencing.Among all subjects screened, the overall prevalence of hemoglobinopathies and thalassemias were 0.46% (47/10,285) and 21.02% (2162/10,285) in Northern Guangdong Province. We found that Hb Q-Thailand is the most common, and other types of hemoglobinopathies are followed by Hb E, Hb New York, Hb G-Chinese, Hb G-Coushatta, Hb J-Bangkok, Hb J-Broussais, Hb Ottawa, and Hb G-Taipei. We identified 1340 cases (13.03%) of α-thalassemia, mainly includes --SEA deletion (71.64%), –α3.7 deletion (12.01%), –α4.2 deletion (4.78%). And identified 652 cases (6.34%) of β-thalassemia, the most prevalent being CD 41/42(-TTCT) (35.89%), IVS-II-654 (C > T) (33.44%), CD 17 (A > T) (10.28%) and –28(A > G) (9.66%). Furthermore, there are 170 cases (1.65%) of α combined β thalassaemia. In addition, we found a rare case with –80 (T > A) of β-thalassemia. The results of this study found a high prevalence of hemoglobinopathies and thalassemias in Northern Guangdong Province, China. There were some differences molecular characterizations of thalassemia in different areas of China.Our results enriched the related information of hemoglobinopathies and thalassemias in the region, which provided valuable references for the prevention and control of thalassemia.

Prevalence and molecular characterization of alpha and beta-Thalassemia mutations among Hakka people in southern China

“…We discovered that the total incidence of thalassemia mutation carriers was 44.09%, including 30.85% subjects of α-thal variation alone, 11.50% subjects of β-thal variation alone, and 1.75% subjects of both of them. It is much higher than that of the neighboring regions Shaoguan (Ma et al, 2021) and Meizhou (Zhao et al, 2018). There were significant statistical differences between the three regions which are located in Guangdong province (P<0.01).…”

“…Besides, ethnic differences are also noted. In Shaoguan and Meizhou, ethnic minorities such as Yao people and She people are included (Zhao et al, 2018;Ma et al, 2021). In our study, only the Hakka people of Han nationality are studied.…”

“…According to investigation, the Hakkas with unique genetic characteristics are considered Han Chinese people that primarily live in southern China. Many studies have shown significant genetic heterogeneity among Hakka people in different regions (Zhao et al, 2018;Ma et al, 2021). As one of the primary residences of the Hakkas, Heyuan City is situated in the northern mountainous area of Guangdong Province, China (Figure 1).…”

The percentage of hemoglobin Bart’s among group of neonates in Al-Najaf City

“…It is estimated that there are 270 million carriers of mutant globin genes that can potentially cause severe forms of thalassemia. Globally, more than 1.0% of couples are at risk of having children with severe hemoglobinopathy, with more than 330,000 affected babies born each year [4] , more than 95% of which occur in Asia, India and Middle East [5] . Although the frequency of α-thalassemia carriers in Iran has not been well identified, a report from northern Iran has estimated its frequency to be around 15% [6] .…”

Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China

“…In China, the regions south of the Yangtze River have high incidence of thalassemia. Guangxi, Guangdong, Hainan, Guizhou, Yunnan, and Hunan have thalassemia carrier rates of 11%-25% (Yao et al, 2014;Ma et al, 2021;Chen P. et al, 2022a). As of 2015, there are more than 30 million thalassemia carriers in China, and out of them 300,000 have intermediate or severe thalassemia, thus it is critical to manage the health burden of thalassemia in areas prevalent with thalassemia (Huang et al, 2019).…”