DynaLIFEDx, Edmonton, Alberta.
Clin Biochem. 2012 Feb;45(3):264-6. doi: 10.1016/j.clinbiochem.2011.11.012. Epub 2011 Dec 8.
Hemoglobinopathies and thalassemias together form the most common genetic disease in the world. Double heterozygosity, in which there is a hemoglobin variant, in both the α- and non-α globin chains, is very unusual. A novel double heterozygosity of the α chain variant HbQ India with the non-α chain HbD Punjab is described.
The index case is a 39 year old female of Indian origin. HPLC analysis using the Bio Rad β thalassemia method and electrophoresis at both alkaline and acid pH were performed.
HPLC shows four major bands and electrophoresis at alkaline pH shows 3 bands and 2 bands at acid pH.
Both the HPLC and electrophoresis at alkaline and acid pH are consistent for the double heterozygous hemoglobin variants HbQ India and HbD Punjab.
This is the first literature report of the double heterozygosity of HbQ India/HbD Punjab.
血红蛋白病和地中海贫血症共同构成了世界上最常见的遗传疾病。在α和非α珠蛋白链中同时存在血红蛋白变异的双重杂合性非常罕见。本文描述了一种新型的α珠蛋白链变异型 HbQ India 与非α珠蛋白链 HbD Punjab 的双重杂合性。
本研究的索引病例是一位 39 岁的印度裔女性。使用 Bio Rad β 地中海贫血法进行高效液相色谱分析（HPLC），并在碱性和酸性 pH 条件下进行电泳。
HPLC 显示有四个主要条带，碱性 pH 电泳显示有 3 条带，酸性 pH 电泳显示有 2 条带。
碱性和酸性 pH 条件下的 HPLC 和电泳结果均一致，提示存在双重杂合血红蛋白变异型 HbQ India 和 HbD Punjab。
这是 HbQ India/HbD Punjab 双重杂合性的首次文献报道。
