Đặc điểm lâm sàng và huyết học theo gen đột biến của bệnh nhi thalassemia tại bệnh viện trẻ em hải phòng

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Tác giả: Thị Như Quỳnh Bạch, Thị Quỳnh Mai Đỗ, Ngọc Sáng Nguyễn

Ngôn ngữ: vie

Ký hiệu phân loại: 618.92 Pediatrics

Thông tin xuất bản: Tạp chí y học việt nam (tổng hội y học việt nam), 2021

Mô tả vật lý: 343-347

Bộ sưu tập: Metadata

ID: 489209

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Mô tả đặc điểm lâm sàng và huyết học theo đột biến gen phổ biến của bệnh thalassemia ở trẻ em. Đối tượng(:) 83 bệnh nhi Thalassemia điều trị tại bệnh viện Trẻ em Hải Phòng từ 01/01/2015 đến 31/12/2020. Phương pháp(:) Nghiên cứu mô tả một loạt ca bệnh. Kết quả(:) Biểu hiện lâm sàng thể α-thalassemia chủ yếu ở đột biến HbCs - SEA, HbCs và SEA - C2.delT. Bệnh nhi α-thalassemia thiếu máu nhẹ và trung bình (Hb trung bình đột biến 1 gen là 93,8±10,4g/l
2 gen là 92,4±13,5g/l và 3 gen là 87,2±8,5g/l). Tỉ lệ HbA1giảm nhẹ (83,9-94,2%), HbA2 bình thường, HbH tăng (từ 7,8±2,5% đến 11,6±7,3%). Các triệu chứng ở bệnh nhi β-thalassemia biểu hiện ở thể β0β0 (100%) và β0βE (76,6% - 96,2%), ít hơn ở thể β0β (9,5% - 33,3%). Bệnh nhi β-thalassemia thiếu máu từ trung bình (Hb trung bình thể β0β0 là 68,2±12,5g/l và β0βE là 79,8±14,2g/l) đến nhẹ (101,7±15,2 g/l). Thành phần Hb thay đổi(:) Thể β0β0, HbA1 giảm (35,7±12,2%), HbF tăng (60,8±23,7%)
Thể β0βE có HbA1 giảm (26,1±14,1%)
HbF tăng (38,5±14,6%) và HbE tăng (38,3±15,7%)
Đột biến β0β, có HbA1 giảm (73,7±26,5%)
HbA2 tăng (3,8±1,5%) và HbF tăng (21,2±4,3%). Kết luận(:) α-thalassemia ít biểu hiện trên lâm sàng. Huyết học thay đổi tùy số gen tổn thương. Đặc trưng điện di Hb với tỉ lệ HbH tăng. Lâm sàng và chỉ số huyết học của bệnh nhân β-thalassemia( )thay đổi nhiều ở β0β0 và β0βE hơn β0β. Thành phần Hb thay đổi với HbA giảm, tăng cao HbF và có thể xuất hiện HbE. Có sự liên quan giữa kiểu gen đột biến và kiểu hình ở bệnh nhi thalassemia.To describe clinical and hematological characteristics according to gene mutations of thalassemia in children. Subjects(:) 83 Thalassemia pediatric patients treated at Haiphong Children's Hospital from January 1, 2015, to December 31, 2020. Methods(:) Case-series study. Results(:) Clinical manifestations of α-thalassemia are mainly in HbCs - SEA, HbCs and SEA - C2.delT mutations. Pediatric α-thalassemia mild-moderate anemia (mean Hb mutation of 1 gene(:) 93.8±10.4g/l
2 genes(:) 92.4±13.5g/l and 3 genes(:) 87.2±8.5g/l). The rate of HbA1 decreased slightly (83.9-94.2%), HbA2 was normal, HbH increased (from 7.8±2.5% to 11.6±7.3%). Symptoms in children with β-thalassemia were expressed in β0β0 (100%) and β0βE (76.6% - 96.2%), less so in β0β (9.5% - 33.3%). Pediatric β-thalassemia anemia ranged from moderate (mean Hb of β0β0 body was 68.2±12.5g/l and β0βE was 79.8±14.2g/l) to mild (101.7±15.2 g) /l). Hb composition changed(:) The β0β0, HbA1 decreased (35.7±12.2%), HbF increased (60.8±23.7%)
The β0βE form has decreased HbA1 (26.1±14.1%)
HbF increased (38.5±14.6%) and HbE increased (38.3±15.7%)
Mutant β0β with reduced HbA1 (73.7±26.5%)
HbA2 increased (3.8±1.5%) and HbF increased (21.2±4.3%).

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