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血红蛋白Q印度特性与镰状细胞贫血的新型关联:血红蛋白病的新见解

A Novel Association of HbQ India Trait with Sickle Cell Anemia: a New Insight in Hemoglobinopathies.

作者信息

Gupta Rakesh K, Verma Kartavya Kumar, Singh Gurmeet

机构信息

Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Academic block, third floor, Raipur, 492099 India.

Department of Pathology, Jawahar Lal Nehru Hospital & Research Center, Bhilai, 490006 India.

出版信息

SN Compr Clin Med. 2022;4(1):14. doi: 10.1007/s42399-021-01103-y. Epub 2022 Jan 4.

Abstract

HbQ India is a rare α-chain structural hemoglobinopathy usually asymptomatic and presents in the heterozygous form or co-inherited with β-thalassemia trait. Herein, we are reporting the third case of novel association of HbQ India with HbS trait hemoglobinopathy in a 30-year-old young male presented with chief complaints of yellowish discoloration of sclera since 5 years with raised serum bilirubin levels along with pedigree analysis of the family.

摘要

印度血红蛋白Q病是一种罕见的α链结构性血红蛋白病,通常无症状,以杂合子形式出现或与β地中海贫血特征共同遗传。在此,我们报告了第三例印度血红蛋白Q病与镰状血红蛋白特征性血红蛋白病新关联的病例,患者为一名30岁男性,主要症状是5年来巩膜发黄,血清胆红素水平升高,并对其家族进行了系谱分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6c67/8723905/b60bc517a289/42399_2021_1103_Fig1_HTML.jpg

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