毛细血管2型Flex穿刺检测到一例罕见的血红蛋白布鲁姆希尔病例。

Capillarys 2 Flex Piercing Detected a Rare Case of Hb Broomhill.

作者信息

Ling Liqin, Chen Hao, Liu Chaonan, Chen Si, Jin YaXiong, Zhou Jing

机构信息

West China School of Medicine/West China Hospital, Sichuan University, Chengdu, P.R. China.

Department of Laboratory medicine, West China Hospital, Sichuan University, Chengdu, P.R. China.

出版信息

Ann Clin Lab Sci. 2017 Sep;47(5):625-627.

PMID:29066493

Abstract

We report a case of an extremely rare hemoglobin (Hb) variant-Hb Broomhill, which has been only reported once in the literature. Hemoglobin fractions were determined by capillary electrophoresis (Sebia Capillarys 2 Flex piercing) and high performance liquid chromatography (HPLC) (Bio-Rad Variant™ II Hemoglobin Testing System), respectively. Complete blood count and DNA sequencing were also performed. The capillary electrophoregram revealed a tiny shoulder peak before the HbA peak and a subtle abnormal HbA peak (slightly wider and lower), even though the percentage of each hemoglobin fraction was within the reference range (HbA, 97.4%; HbA, 2.6%). On HPLC, not only the percentage but also the peak shape of each hemoglobin fraction was normal (HbA 88.2%, HbA 2.5%, HbF 0.6%). Eventually, sequencing analysis of α genes confirmed a missense mutation (CCC>GCC at codon 114 in alpha1 gene) which caused Hb Broomhill variant. Our report suggest that capillary electrophoresis may be an accurate tool for screening and diagnosis of Hb disorders.

摘要

我们报告了一例极其罕见的血红蛋白（Hb）变异体——Hb布鲁姆希尔，该变异体在文献中仅被报道过一次。血红蛋白组分分别通过毛细管电泳（Sebia Capillarys 2 Flex穿刺法）和高效液相色谱法（HPLC）（伯乐Variant™ II血红蛋白检测系统）进行测定。同时还进行了全血细胞计数和DNA测序。毛细管电泳图谱显示，在HbA峰之前有一个微小的肩峰，以及一个轻微异常的HbA峰（略宽且略低），尽管各血红蛋白组分的百分比在参考范围内（HbA，97.4%；HbA，2.6%）。在HPLC检测中，不仅各血红蛋白组分的百分比正常，而且峰形也正常（HbA 88.2%，HbA 2.5%，HbF 0.6%）。最终，α基因的测序分析证实了一个错义突变（α1基因第114密码子处CCC>GCC），该突变导致了Hb布鲁姆希尔变异体。我们的报告表明，毛细管电泳可能是筛查和诊断血红蛋白疾病的一种准确工具。