RESEARCH ON HEMATOLOGICAL CHARACTERISTICS AND MUTATIONS OF β – THALASSEMIA IN FRESHMAN STUDENTS OF CAN THO UNIVERSITY OF MEDICINE AND PHARMACY

Thanh Dương Nguyễn1, Hữu Khánh Mai1, Quốc Trãi Diệp1, Thị Ngọc Hơn Nguyễn1, Thiện Tâm Phạm1, Minh Cường Trần1, Hữu Chường Nguyễn1, Thị Ngọc Nga Phạm1,
1 Can Tho University of Medicine - Pharmacy

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Abstract

Background: β-Thalassaemia (β-Thal) disease caused by mutations in the β-globin gene causes hereditary hemolytic anemia, seriously affecting the quality of life of patients. Objective: To determine the genetic mutations causing β-Thal disease in students of Can Tho University of Medicine and Pharmacy in 2022. Materials and methods: A cross-sectional descriptive study on 70 freshmen studying at the University of Medicine and Pharmacy. A student at the University of Medicine and Pharmacy (CTUMP) was diagnosed with the β-Thal disease by hemoglobin electrophoresis technique. Results: There were two β-Thal diseases identified as HbAE (77.1%) and heterozygous β-Thal (22.9%). In the survey characteristics, ethnic characteristics, and abnormal types of MCV/MCH were related with statistical significance (p<0.05) with the rate of these two diseases. Regarding the pathogenic mutations, there were a total of 7 types of mutations concluded from the results of gene sequencing with a decreasing rate: Cd26 A>G (77.1%), Cd41/42 –TTCT (7). ,first%); Cd17 A>T (4.3%), Cd71/72 +A (4.3%), IVS1.1 G>T (2.9%), IVS2.654 C>T (2.9%), Cd95 +A (1.4%). Except for the place of residence (p<0.001), the remaining characteristics including sex, ethnicity, age group, course, and MCV/MCH abnormality type were all significantly related to the occurrence. show these mutations. Conclusion: 07 types of mutations identified in students of CTUMP are all common mutations in Vietnam.

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References

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