Clinical analysis of three cases with beta-thalassemia
10.3760/cma.j.issn.0578-1310.2018.04.011
- VernacularTitle: β地中海贫血三例临床分析
- Author:
Xinyu LI
1
;
Manjiao LIU
;
Lyuhong XU
;
Honggui XU
;
Hailei CHEN
;
Jianpei FANG
Author Information
1. Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China
- Publication Type:Clinical Trail
- Keywords:
Beta-thalassemia;
Genes;
Blood protein electrophoresis
- From:
Chinese Journal of Pediatrics
2018;56(4):294-297
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the diagnostic strategy of β-thalassemia through retrospective analysis of 3 cases of β-thalassemia.
Methods:Three patients were admitted to the Department of Pediatrics, Sun Yat-sen Memorial Hospital of Sun Yat-sen University from January 2014 to June 2015. The clinical manifestations, hemoglobin electrophoresis and gene detection of these patients and their parents were analyzed, diagnostic ideas and key points were discussed when beta thalassemia gene detection did not explain clinical manifestations or hemoglobin electrophoresis.
Results:Case 1, boy, 5 years old, was diagnosed as compound heterozygotes of β41-42 and IVS-Ⅱ-654 with hereditary persistence of fetal hemoglobin(HPFH) according to the clinical manifestations of mild anemia, normal size of liver and spleen, 92.8% fetal hemoglobin (HbF) and gene analysis. Case 2, girl, 3 years old, was confirmed the diagnosis of thalassemia intermedia with β41-42 heterozygote compound and αααanti3.7 heterozygote in accordance with the manifestations of severe anemia, hepatosplenomegaly, 8.6% HbF, 4.1% hemoglobin A2(HbA2) and gene analysis. Case 3, girl, 3 years old, with severe anemia, hepatosplenomegaly, 51.2% HbF and 3.7% HbA2, was diagnosed as thalassemia major with compound heterozygotes of PolyA (T→C) and β17 by DNA sequencing.
Conclusion:The diagnosis of β-thalassemia should be confirmed by clinical manifestations of hemolytic anemia, hemoglobin electrophoresis, gene diagnosis and family survey.
