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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Detection of Compound Heterozygous Sickle Cell-b+ Thalassaemia in a Patient with Extreme Weakness, Mild Jaundice and Moderate Anaemia - A Case Report ED07-ED08
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Detection of Compound Heterozygous Sickle Cell-b+ Thalassaemia in a Patient with Extreme Weakness, Mild Jaundice and Moderate Anaemia - A Case Report ED07-ED08

机译：极度虚弱，轻度黄疸和中度贫血患者的复合杂合镰状镰刀状b +地中海贫血的检测-病例报告ED07-ED08

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摘要

A 16-year-old female complained of extreme weakness. She had moderate anaemia; her Haemoglobin (Hb) was 7.7 gm/dl. Peripheral blood smear showed few sickled red cells. Sickle cell test was positive. High-Performance Liquid Chromatography (HPLC) revealed elevated levels of HbS (38.4%) and HbF (15.7%). In addition, HbA2 concentration was 3.8% and HbA concentration was 42.1%. Results suggested a diagnosis of compound heterozygous sickle cell-?+thalassaemia. Sickle cell test was also positive with blood of patient?s brother; Hb HPLC examination showed relatively low concentration of HbS (25.2%) suggesting a diagnosis of sickle cell trait. Chromatogram of patient?s step sister suggested a diagnosis of thalassaemia trait. Findings of this study suggested that abnormal genes were inherited in the patient from both the parents. It was interpreted that repeated haemolysis in the patient might have contributed to anaemia, weakness, rise in indirect bilirubin and jaundice. Furthermore, high level of HbF (>12%) may interfere with polymerization of sickle haemoglobin suggesting beneficial effects of HbF-inducing agents which may inhibit sickling.
机译：一名16岁女性抱怨自己极度虚弱。她患有中度贫血;她的血红蛋白（Hb）为7.7 gm / dl。外周血涂片显示少量镰状红细胞。镰状细胞试验为阳性。高效液相色谱（HPLC）显示HbS（38.4％）和HbF（15.7％）的水平升高。另外，HbA2浓度为3.8％，HbA浓度为42.1％。结果提示诊断为复合杂合镰状细胞-β+地中海贫血。患者兄弟的血液中镰状细胞试验也呈阳性。 Hb HPLC检查显示相对较低的HbS浓度（25.2％），提示诊断为镰状细胞性状。患者继妹的色谱图表明可诊断为地中海贫血。这项研究的结果表明，患者体内的异常基因是由父母双方遗传的。据解释，患者反复溶血可能导致贫血，虚弱，间接胆红素升高和黄疸。此外，高水平的HbF（> 12％）可能会干扰镰状血红蛋白的聚合，表明HbF诱导剂的有益作用可能会抑制镰状化。

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