-α3.7/—SEA地中海贫血2例诊断及临床特点分析

IF 2.4 3区 医学 Q2 HEMATOLOGY
Xiuling Wang, Yu Ding, Zhiyong Huang, Jin Huang
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引用次数: 0

摘要

α-地中海贫血是一种遗传性溶血性贫血,α-珠蛋白基因缺失程度不同,临床表现差异很大。-α3.7/——SEA型地中海贫血是α-地中海贫血的中间型,有3个α-珠蛋白基因缺失。-α3.7/——SEA地中海贫血的临床症状从轻度到中度贫血[1]不等。然而,-α3.7/—SEA地中海贫血的诊断和临床症状报道较少。本研究报告2例-α3.7/- SEA地中海贫血,1例因慢性头痛住院,1例因胆红素升高门诊。两例患者首先进行血液检查,实验室数据显示血红蛋白浓度和平均红细胞体积下降。外周血涂片示成熟红细胞大小差异明显,中心苍白区增大,偶见卵圆形红细胞,提示可能为小细胞性低色性贫血。血红蛋白电泳显示HbA2水平低,提示α-地中海贫血或δ-地中海贫血。反向斑点杂交法检测两例患者α-珠蛋白基因缺失。改善贫血治疗后,住院患者头痛明显缓解,病情稳定。综合判断临床症状和实验室检查结果适用于-α3.7/—SEA地中海贫血的诊断。-α3.7/——SEA地中海贫血可能导致临床症状和并发症的个体差异,需要更多的关注和早期治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The diagnosis and clinical characterization of -α3.7/--SEA thalassemia patients: two cases report.

α-thalassemia is a hereditary hemolytic anemia, in which the clinical manifestations vary greatly depending on the degree of α-globin gene deletion. -α3.7/--SEA thalassemia is an intermediate type of α-thalassemia, with three α-globin genes deletion. The clinical symptoms of -α3.7/--SEA thalassemia vary from mild to moderate anemia [1]. However, little studies had reported the diagnosis and clinical symptoms of -α3.7/--SEA thalassemia. Here we reported two cases of -α3.7/--SEA thalassemia, one inpatient for chronic headache and one outpatient for elevated bilirubin. Two patients were first subjected to blood test, and the laboratory data showed the decreased hemoglobin concentration and mean corpuscular volume. Peripheral blood cells smear displayed that the mature red blood cells were markedly different in size, with enlarged central pale area, occasional oval red blood cells, suggesting the potential microcytic hypochromic anemia. Hemoglobin electrophoresis displayed the low level of HbA2, indicating the α-thalassemia or δ-thalassemia. Reverse dot blot hybridization assay detected the deletion of α-globin genes in the two cases. After ameliorative treatment for anemia, the inpatient's headache was significantly relieved and stable. Comprehensive judgment of clinical symptoms and laboratory test results is applicative for -α3.7/--SEA thalassemia diagnosis. -α3.7/--SEA thalassemia may lead to individual differences in clinical symptoms and complications, which requires more attention and early treatment.

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来源期刊
Annals of Hematology
Annals of Hematology 医学-血液学
CiteScore
5.60
自引率
2.90%
发文量
304
审稿时长
2 months
期刊介绍: Annals of Hematology covers the whole spectrum of clinical and experimental hematology, hemostaseology, blood transfusion, and related aspects of medical oncology, including diagnosis and treatment of leukemias, lymphatic neoplasias and solid tumors, and transplantation of hematopoietic stem cells. Coverage includes general aspects of oncology, molecular biology and immunology as pertinent to problems of human blood disease. The journal is associated with the German Society for Hematology and Medical Oncology, and the Austrian Society for Hematology and Oncology.
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