PDF(Pubmed)
Abstract：
BACKGROUND: Compound heterozygotes for deletional β-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.
METHODS: We reported pedigree analysis and genetic research in a family with rare β-thalassemia.
METHODS: Pedigree analysis and genetic research demonstrated that the patient was a compound heterozygote for β-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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: We report that fetal hemoglobin is a sensitive indicator for screening large deletions of the β-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 β-thalassemia and has important implications for genetic counseling.
METHODS: We reported pedigree analysis and genetic research in a family with rare β-thalassemia.
METHODS: Pedigree analysis and genetic research demonstrated that the patient was a compound heterozygote for β-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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: We report that fetal hemoglobin is a sensitive indicator for screening large deletions of the β-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 β-thalassemia and has important implications for genetic counseling.
摘要：
背景：由于其不同的临床表现和没有常规筛查，用于缺失性β-地中海贫血的复合杂合子可能难以诊断。这可能导致疾病进展和治疗延迟。
方法：我们报道了一个罕见β-地中海贫血家族的家系分析和遗传研究。
方法：家系分析和基因研究证明该患者是β-地中海贫血CD17/东南亚遗传性持续性胎儿血红蛋白缺失的复合杂合子，继承自父母。磁共振成像T2*检查显示肝脏中严重的铁沉积。超声心动图提示心内膜垫缺损。
方法：患者在接受最终分子遗传学诊断后接受地拉罗司治疗。Deferasirox的初始每日一次剂量为20mg/kg/d。
结果：患者在首次就诊后三个月停止用药。两年后,患者就诊于肝胆胰疾病科。建议他在先天性心脏病手术修复后接受脾切除术。然而,患者因经济负担而拒绝手术治疗。
结论：我们报告说，胎儿血红蛋白是筛查β-珠蛋白基因大缺失的敏感指标，这可以通过多重连接依赖性探针扩增试验得到有效证实。在非输血依赖性地中海贫血患者中，应定期进行铁状态评估，铁螯合治疗应及早开始。该病例将为罕见基因型β-地中海贫血的诊断提供见解，并对遗传咨询具有重要意义。
方法：我们报道了一个罕见β-地中海贫血家族的家系分析和遗传研究。
方法：家系分析和基因研究证明该患者是β-地中海贫血CD17/东南亚遗传性持续性胎儿血红蛋白缺失的复合杂合子，继承自父母。磁共振成像T2*检查显示肝脏中严重的铁沉积。超声心动图提示心内膜垫缺损。
方法：患者在接受最终分子遗传学诊断后接受地拉罗司治疗。Deferasirox的初始每日一次剂量为20mg/kg/d。
结果：患者在首次就诊后三个月停止用药。两年后,患者就诊于肝胆胰疾病科。建议他在先天性心脏病手术修复后接受脾切除术。然而,患者因经济负担而拒绝手术治疗。
结论：我们报告说，胎儿血红蛋白是筛查β-珠蛋白基因大缺失的敏感指标，这可以通过多重连接依赖性探针扩增试验得到有效证实。在非输血依赖性地中海贫血患者中，应定期进行铁状态评估，铁螯合治疗应及早开始。该病例将为罕见基因型β-地中海贫血的诊断提供见解，并对遗传咨询具有重要意义。
