诊断为复合杂合子血红蛋白 S/血红蛋白 Q 印度新型血红蛋白病。
Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India.
机构信息
Thyrocare Technologies Limited, D-37/1, TTC MIDC, Turbhe, Navi Mumbai, Maharashtra 400 703, India.
Thyrocare Technologies Limited, D-37/1, TTC MIDC, Turbhe, Navi Mumbai, Maharashtra 400 703, India.
出版信息
Clin Chim Acta. 2015 Mar 10;442:33-5. doi: 10.1016/j.cca.2014.12.037. Epub 2015 Jan 7.
BACKGROUND
A novel double heterozygosity for the α chain variant Hb Q India and β chain variant Hb S is described. Hb S is prevalent in the central part of India while Hb Q India in its heterozygous state is found mainly in Sindhi families.
METHODS
Identification of both the variants, Hb S and Hb Q India, was done based on chromatograms of HPLC and capillary zone electrophoresis (CE). Confirmation of variants was done by PCR based amplification refractory mutation system (ARMS) technique.
RESULTS
Both HPLC and CE confirmed the presence of Hb S. HPLC showed a pointed narrow peak of Hb Q India at retention time of 4.55min while it is eluted in Hb D zone on CE. A hybrid variant of these α and β globin chains was eluted in Hb C window and Hb C zone on HPLC and CE respectively. Molecular studies using ARMS technique confirmed these findings. Both the cases showed positive sickling test and presented with mild anemia.
CONCLUSION
This is a unique 2 index cases for compound heterozygosity of Hb S with Hb Q India.
背景
描述了一种新的α链变体 Hb Q India 和β链变体 Hb S 的双重杂合性。Hb S 在印度中部很常见，而 Hb Q India 则主要在信德语系家庭中发现为杂合状态。
方法
基于高效液相色谱法（HPLC）和毛细管区带电泳（CE）的色谱图鉴定了 Hb S 和 Hb Q India 这两种变体。通过基于聚合酶链反应的扩增受阻突变系统（ARMS）技术确认了变体。
结果
HPLC 和 CE 均证实存在 Hb S。HPLC 在保留时间为 4.55 分钟时显示 Hb Q India 的尖锐狭窄峰，而在 CE 上则在 Hb D 区洗脱。这些α和β珠蛋白链的杂交变体分别在 HPLC 和 CE 上在 Hb C 窗口和 Hb C 区洗脱。使用 ARMS 技术的分子研究证实了这些发现。这两个病例均呈镰状细胞阳性试验，并表现为轻度贫血。
结论
这是 Hb S 与 Hb Q India 复合杂合性的 2 个独特索引病例。
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