Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

Yang, Zhuo; Cui, Quexuan; Zhou, Wen; Qiu, Ling; Han, Bing

doi:10.1002/mgg3.680

Cited by 24 publications

(20 citation statements)

References 18 publications

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“…Thalassemia is a significant health problem worldwide. In China, it is mainly prevalent in Guangdong, Guangxi, and Hainan province 5 . Meizhou, located in the northeast of Guangdong province, is an underdeveloped city, although certain effects have been achieved through prevention and control; the prevention and treatment of thalassemia in Meizhou is still a difficult task.…”

Section: Discussionmentioning

confidence: 99%

Molecular analysis of alpha‐ and beta‐thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China

Huang

et al. 2021

Clinical Laboratory Analysis

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Background Thalassemia is a group of inherited autosomal recessive hemolytic anemia disease caused by reduced or absent synthesis of globin chain/chains of hemoglobin. Only few studies showed the molecular characterization of α‐ and β‐thalassemia in Meizhou city of China. Methods A total of 22,401 individuals were collected; hematological and hemoglobin electrophoresis analysis and thalassemia genetic testing were performed. Results Eleven thousand and thirty (49.24%) cases with microcytosis (mean corpuscular volume (MCV) < 82 fl), 11,074 (49.44%) cases with hypochromia (mean corpuscular Hb (MCH) < 27 pg) in 22,401 subjects, 11,085 cases with abnormal hemoglobin results were identified in subjects aged ≥6 months. 7,322 (32.69%) subjects harbored thalassemia mutations, including 4,841 (21.61%) subjects with α‐thalassemia, 2,237 (9.99%) with β‐thalassemia, and 244 (1.09%) with α‐thalassemia combined β‐thalassemia. 18 genotypes of α‐thalassemia mutations and 27 genotypes of β‐thalassemia mutations were characterized. The most frequent α gene mutation was ‐‐SEA (64.69%), followed by ‐α3.7 (19.93%), ‐α4.2 (7.73%), αCSα (3.97%), and αWSα (2.83%). The six most common β‐thalassemia mutations were IVS‐II‐654 (C>T) (39.79%), CD41‐42 (‐TCTT) (33.02%), −28 (A>G) (10.38%), CD17 (A>T) (9.08%), CD27‐28 (+C) (2.14%), and CD26 (G>A) (2.02%). In addition, MCV and MCH were sensitive markers for α‐ and β‐thalassemia except for ‐α3.7/αα, ‐α4.2/αα, αCSα/αα, αWSα/αα, and βCap+40−43/βN. Conclusions The ‐‐SEA, ‐α3.7, and ‐α4.2 deletions were the main mutations of α‐thalassemia, while IVS‐II‐654 (C>T), CD41‐42 (‐TCTT), −28 (A>G), and CD17 (A>T) mutations of β‐thalassemia in Meizhou. There were some differences in thalassemia mutation frequencies in Meizhou city from other populations in China.

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Section: Discussionmentioning

confidence: 99%

Molecular analysis of alpha‐ and beta‐thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China

Huang

et al. 2021

Clinical Laboratory Analysis

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“…According to the instructions (14). We used QIAamp DSP DNA Blood Mini Kit to extract DNA from blood.…”

Section: Genetic Analysesmentioning

confidence: 99%

Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province

et al. 2020

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“…We have also demonstrated that the pathogenic mutation of betathalassemia was c.52A > T (p.Lys18Ter) of HBB (NM_000518.5) (Figure 2E) which is very common in the Chinese population (Yang et al, 2019). And the mutation was detected in all of the 7 family members with abnormal MCV values ( Table 1).…”

Section: Subjects Agementioning

confidence: 70%

A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review

et al. 2020

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Thrombocytopenia 2 (THC2) is one of the most prevalent forms of inherited thrombocytopenia. It is caused by a heterogeneous group of ANKRD26 gene mutation and shows a heterogeneous clinical and laboratory characteristics. We present a big Chinese family with 10 THC2 patients carrying c.-128G > T heterozygous substitution in the 5-untranslated region of the ANKRD26 gene. Although the platelets are fewer than 50 × 10 9 /L in 8 THC2 family members, only the proband and her son show a higher WHO bleeding score. The proband and her son are also beta-thalassemia carriers with heterozygous c.52A > T mutation of HBB, which might not be associated with the increased bleeding tendency since 3 other family members with low bleeding tendency also carried both ANKRD26 c.-128G > T and HBB c.52A > T mutations. However, the proband and her son also show hypofibrinogenaemia, which is likely the cause of their more severe clinical manifestation. HID1 c.442G > T mutation was detected not only in these two hypofibrinogenaemia family members but also in the other 8 family members with normal blood fibrinogen levels. Our study suggests that the co-occurrence of other inherited genetic conditions associated with blood coagulation might contribute to the heterogeneity of clinical and laboratory characteristics in THC2 patients. Considering the hematologic and myeloid malignancy predisposition of THC2 patients and a large population of immune thrombocytopenia in China, we urge more attention to be paid to the diagnosis of THC2 patients to avoid misdiagnosis and mistreatment.

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Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia

Cited by 24 publications

References 18 publications

Molecular analysis of alpha‐ and beta‐thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China

Molecular analysis of alpha‐ and beta‐thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China

Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province

A Rare Big Chinese Family With Thrombocytopenia 2: A Case Report and Literature Review

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