Compound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and β0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report

被引:0
|
作者
Wang, Guangli [1 ]
Deng, Huiping [1 ,2 ]
Peng, Peng [3 ]
Zheng, Haiqing [1 ]
Tian, Baodong [1 ]
Zhu, Chunjiang [1 ,4 ]
机构
[1] Guilin Med Univ, Affiliated Hosp, Genet & Precis Med Lab, Guilin 541001, Peoples R China
[2] Third Peoples Hosp Hubei Prov, Dept Neonatol, Wuhan, Peoples R China
[3] Guangxi Med Univ, Affiliated Hosp 1, Dept Radiol, Nanning, Peoples R China
[4] Guilin Med Univ, Affiliated Hosp, Dept Pediat, Guilin, Peoples R China
基金
中国国家自然科学基金;
关键词
beta-case report; genotype; iron overload; SEA-HPFH; thalassemia; LIVER IRON; BETA; HEART;
D O I
10.1097/MD.0000000000037446
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Rationale:Compound heterozygotes for deletional beta-thalassemia can be difficult to diagnose due to its diverse clinical presentations and no routine screenings. This can lead to disease progression and delay in treatment. Patient concerns:We reported pedigree analysis and genetic research in a family with rare beta-thalassemia. Diagnosis:Pedigree analysis and genetic research demonstrated that the patient was a compound heterozygote for beta-thalassemia CD17/Southeast Asian hereditary persistence of fetal hemoglobin deletion, inherited from the parents. Magnetic resonance imaging T2* examination revealed severe iron deposition in the liver. Echocardiography revealed endocardial cushion defect. Interventions:The patient was treated with Deferasirox after receiving the final molecular genetic diagnosis. The initial once-daily dose of Deferasirox was 20 mg/kg/d. Outcomes:The patient discontinued the medication three months after the first visit. Two years later, the patient visited the Department of Hepatobiliary and Pancreatic Diseases. He was recommended to undergo splenectomy after surgical repair of the congenital heart disease. However, the patient refused surgical treatment because of the economic burden. Lessons:We report that fetal hemoglobin is a sensitive indicator for screening large deletions of the beta-globin gene, which can be effectively confirmed by the multiplex ligation-dependent probe amplification assay. In non-transfusion-dependent thalassemia patients, iron status assessment should be regularly performed, and iron chelation treatment should be initiated early. This case will provide insights for the diagnosis of rare genotypes of beta-thalassemia and has important implications for genetic counseling.
引用
收藏
页数:8
相关论文
共 2 条
  • [1] Genetic research and clinical analysis of deletional ChineseGγ+(Aγδβ)0-thalassemia and Southeast Asian HPFH in South China
    Wu, Yuanjun
    Yao, Qianyu
    Zhong, Ming
    Wu, Jianying
    Xie, Longxu
    Su, Linnan
    Yu, Fubing
    ANNALS OF HEMATOLOGY, 2020, 99 (12) : 2747 - 2753
  • [2] Genetic research and clinical analysis of deletional Chinese Gγ+(Aγδβ)0 -thalassemia and Southeast Asian HPFH in South China
    Yuanjun Wu
    Qianyu Yao
    Ming Zhong
    Jianying Wu
    Longxu Xie
    Linnan Su
    Fubing Yu
    Annals of Hematology, 2020, 99 : 2747 - 2753