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双重杂合子血红蛋白Q印度型/血红蛋白D旁遮普型血红蛋白病:两例罕见病例报告

Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases.

作者信息

Mutreja Deepti, Tyagi Seema, Tejwani Narender, Dass Jasmita

机构信息

Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Hum Genet. 2013 Oct;19(4):479-82. doi: 10.4103/0971-6866.124381.

Abstract

Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. The double heterozygosity for α and β chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic.

摘要

阳离子交换高效液相色谱法(CE HPLC)为准确可靠地诊断各种血红蛋白(Hb)疾病提供了一个出色的工具。印度血红蛋白Q(HbQ India)是一种罕见的α链变异体,通常以杂合子状态出现。它与旁遮普血红蛋白D(HbD Punjab)处于双重杂合子状态极为罕见。α链和β链变异体的双重杂合性会导致异常异二聚体杂种的形成,这可能会导致诊断难题。我们报告了两例罕见的印度血红蛋白Q/旁遮普血红蛋白D双重杂合子病例,在CE HPLC上观察到杂合血红蛋白在与血红蛋白C相似的保留时间处洗脱。第一例病例就诊时出现未结合高胆红素血症;而第二例病例无症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9e7/3897148/6389e8356f97/IJHG-19-479-g001.jpg

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