Tỉ lệ thiếu máu trên thai phụ được sàng lọc có bệnh lý thalassemia trong tam cá nguyệt thứ nhất tại Bệnh viện Đa khoa Thiện Hạnh: Một nghiên cứu cắt ngang=The prevalence of anemia in pregnant women screened with thalassemia in the first trimester at Thien Hanh General Hospital: A cross

Tỉ lệ thiếu máu trên thai phụ được sàng lọc có bệnh lý thalassemia trong tam cá nguyệt thứ nhất tại Bệnh viện Đa khoa Thiện Hạnh: Một nghiên cứu cắt ngang=The prevalence of anemia in pregnant women screened with thalassemia in the first trimester at Thien Hanh General Hospital: A cross - sectional study

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Tác giả: Quang Hùng Nguyễn, Minh Tuấn Võ, Thị Phương Vũ

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2024

Mô tả vật lý: tr.368-375

Bộ sưu tập: Metadata

ID: 243563

Thêm vào giỏ

Mô tả các hình thái đột biến gen globin và xác định tỉ lệ thiếu máu theo các kiểu đột biến gen ở thai phụ được sàng lọc có mang gen bệnh lý thalassemia. Phương pháp nghiên cứu: Nghiên cứu cắt ngang trên 217 thai phụ có kết quả xét nghiệm phân tử chẩn đoán mang gen bệnh thalassemia từ 11 tuần đến 13 tuần 6 ngày, có xét nghiệm tổng phân tích tế bào máu kèm theo tại Bệnh viện đa khoa Thiện Hạnh từ tháng 1/2021 đến tháng 10/2023. Kết quả: Thai phụ bị đột biến gen α- globin là 64,5%, đột biến gen β- globin là 29,5%, thai phụ mang cả 2 đột biến là 6,0%. Thai phụ thalassemia có tỉ lệ thiếu máu là 25,3% (KTC 95%: 19,6 - 31,1). Thai phụ bị kiểu đột biến 3 gen α- globin có tỉ lệ thiếu máu cao nhất (100%) và đột biến 1 gen α- globin có tỉ lệ thiếu máu thấp nhất (14,5%). Kết luận: Không phải có đột biến gen globin là thiếu máu, chỉ 25,3% trong số này. Thai phụ có hình thái kiểu đột biến mất 3 gen α- thalassemia có tỉ lệ thiếu máu cao nhất (100%). Thai phụ có hình thái kiểu đột biến mất 1 gen α- thalassemia có tỉ lệ thiếu máu thấp nhất (14,5%). Cần đưa sàng lọc kiểu gen thalassemia cho những thai phụ trong 3 tháng đầu thai kì, nếu điều kiện tại cơ sở thực hành cho phép.To describe the mutation patterns of globin genes and determine the anemia rates according to genetic mutation types in pregnant women with thalassemia. Methods: A crosssectional study was conducted on 217 pregnant women with molecular test results to diagnose thalassemia gene from 11 weeks to 13 weeks 6 days, accompanied by complete blood count tests at Thien Hanh General Hospital from January 2021 to October 2023. Results: Pregnant women with α-globin gene mutations are 64.5%
β- globin gene mutations are 29.5%
pregnant women carrying both mutations is 6.0%. The anemia rate among pregnant women with thalassemia was 25.3% (95% CI: 19.6 - 31.1). Pregnant women with 3 α-globin gene mutations had the highest anemia rate (100%), while those with 1 α-globin gene mutation had the lowest anemia rate (14.5%). Conclusion: Only 25.3% have globin gene mutations and are anemic. Pregnant women with 3 α-globin gene mutations had the highest anemia rate (100%). And pregnant women with 1 α-globin gene mutations had the lowest anemia rate (14.5%). Thalassemia genotype screening should be given to pregnant women in the first 3 months of pregnancy, if conditions at the practice facility allow.

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