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A Rare Case Of Co-Existent Hb Q India-Beta Thalassemia Trait

机译:Hb Q印度-β地中海贫血共存的罕见案例

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Hb Q- India is a rare alpha chain variant and usually it presents in the heterozygous state. It's presence along with beta thalassemia trait again adds to its rarity. Such a rare entity can be diagnosed by careful screening in routine practice with the use of the techniques like Hb electrophoresis, Solubility test. We report a case of Hb Q in a concomitant presence of Beta thalassemia trait. Case Report A 19 years old boy presented to us for the screening of the beta thalassemia minor and was found to have variant hemoglobin migrating in the position of the Hemoglobin S (HbS) on cellulose acetate electrophoresis at alkaline pH. The patient was asymptomatic without any significant past or family history and clinical examination. Automated cell counter used to determine the cell counts and indices showed the presence of thalassemic indices, whereas solubility test for sickling was negative (Table-1). Suspecting the presence of beta thalassemia trait, Hb electrophoresis at pH 8.4 was performed which showed presence of an abnormal band in the position of Hb S and duplicated bands of Hb A2 apart from normal band of Hb A, suggesting the presence of alpha chain variant in heterozygous state (Figure-1).
机译:Hb Q-印度是一种罕见的α链变体,通常以杂合状态存在。它的存在以及β地中海贫血特征再次增加了它的稀有度。可以通过在常规实践中使用Hb电泳,溶解度测试等技术进行仔细筛选来诊断出这种稀有实体。我们报告伴有β地中海贫血特征的Hb Q病例。病例报告一名19岁男孩介绍给我们,用于筛查未成年人β地中海贫血,并发现在碱性pH下醋酸纤维素电泳的血红蛋白S(HbS)位置上有变异的血红蛋白迁移。该患者无症状,无任何重要的既往史或家族史以及临床检查。用于确定细胞数和指数的自动细胞计数器显示了地中海贫血指数的存在,而镰状菌的溶解度测试为阴性(表1)。怀疑存在β地中海贫血性状,在pH 8.4下进行了Hb电泳,结果表明Hb S位置存在异常谱带,并且Hb A2的谱带与Hb A的正常谱带分开,提示存在α链变体。杂合状态(图1)。

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