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Hb Rush(c.304G>C):一种罕见的血红蛋白变异体,在高效液相色谱上类似于 Hb S(c.20A>T)变异体。

Hb Rush (: c.304G>C): A Rare Variant Hemoglobin Mimicking the Hb S (: c.20A>T) Variant on High Performance Liquid Chromatography.

机构信息

Department of Pathology, Christian Medical College and Hospital, Ludhiana, India.

Department of Haematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Hemoglobin. 2020 Jan;44(1):64-66. doi: 10.1080/03630269.2020.1733009. Epub 2020 Mar 3.

Abstract

High performance liquid chromatography (HPLC) is a useful and rapid tool in the evaluation of hemoglobin (Hb) disorders that include thalassemia and various hemoglobinopathies. Most of the techniques or programs used in automated testing platforms are customized to identify the common variants seen in that particular region. At times, variant Hbs may be identified which are not commonly seen in the local population. This may cause diagnostic dilemma and may require further studies for definitive characterization. We present a patient with Hb Rush (: c.304G>C), a rare unstable Hb variant eluting in the Hb S (: c.20A>T) window on HPLC.

摘要

高效液相色谱法(HPLC)是评估血红蛋白(Hb)疾病的有用且快速的工具,包括地中海贫血症和各种血红蛋白病。自动化测试平台中使用的大多数技术或程序都是针对该特定区域中常见的变体进行定制的。有时,可能会识别出在当地人群中不常见的变体 Hb。这可能会导致诊断上的困境,并可能需要进一步的研究以进行明确的特征描述。我们介绍了一位 Hb Rush(: c.304G>C)患者,这是一种罕见的不稳定 Hb 变体,在 HPLC 上在 Hb S(: c.20A>T)窗口中洗脱。

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