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纯合子 Lepore 综合征:一例报告。

Homozygous Lepore Syndrome: A case report.

作者信息

Bhusal Amrit, Bhandari Silan, Seth Tulika, Sah Rajesh Prasad

机构信息

BP Koirala Institute of Health Sciences, Nepal.

All India Institute of Health Sciences, India.

出版信息

Ann Med Surg (Lond). 2022 Jul 14;80:104168. doi: 10.1016/j.amsu.2022.104168. eCollection 2022 Aug.

Abstract

•Lepore Hemoglobin is a structurally abnormal type of haemoglobin consisting of an abnormal globin chain which is a hybrid or fused globin chain comprising an N-terminal amino acid sequence of a delta chain and the C-terminal amino acid sequence of a beta chain.•The synthesis of these hybrid chains is substantially less than that of the β-chains, resulting in an overall reduction in the non-α globin chains and patients present with a clinical picture of haemolytic anemia.•But Hb Lepore can be differentiated from β-Thalassemia by the presence of a distinct Hb Lepore band on cellulose acetate electrophoresis or quantification in High Performance Liquid Chromatography (HPLC).•Presumptive diagnosis can be made in lab by a multi-faceted approach consisting of a series of blood count/red cell indices, Hb electrophoresis and haemoglobin analysis by HPLC. Quantitative analysis for any Hb variant disorder is made by HPLC better than Hb Electrophoresis, the same was done in our case report.

摘要

• Lepore血红蛋白是一种结构异常的血红蛋白,由异常的珠蛋白链组成,该珠蛋白链是一种杂交或融合的珠蛋白链,包含δ链的N端氨基酸序列和β链的C端氨基酸序列。

• 这些杂交链的合成量明显少于β链,导致非α珠蛋白链总体减少,患者表现为溶血性贫血的临床症状。

• 但通过醋酸纤维素电泳上存在明显的Hb Lepore条带或高效液相色谱(HPLC)定量分析,可将Hb Lepore与β地中海贫血区分开来。

• 在实验室中,可以通过多方面的方法进行初步诊断,包括一系列血细胞计数/红细胞指数、Hb电泳和HPLC血红蛋白分析。对于任何Hb变异疾病的定量分析,HPLC比Hb电泳更好,我们的病例报告也是如此。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fef5/9422200/d1d89c2e8146/gr1.jpg

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