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一名军事学员中血红蛋白科勒-布和镰状细胞性状复合杂合性的独特病例。

A Unique Case of a Compound Heterozygosity of Hemoglobin Korle-Bu and Sickle Cell Trait in a Military Trainee.

作者信息

Bowling Gartrell C, Ryden Niels A, Holmes Allen R, Lee Lauren E, Stoll Kristin

机构信息

San Antonio United Services Health Education Consortium, Brooke Army Medical Center, Fort Sam Houston, TX 78234, USA.

School of Medicine, Uniformed Services University, Bethesda, MD 20814, USA.

出版信息

J Hematol. 2024 Jun;13(3):116-120. doi: 10.14740/jh1257. Epub 2024 Jun 28.

Abstract

Hemoglobin Korle-Bu (Hb KB) is a rare and likely under-reported hemoglobin (Hb) variant resulting from an unusual point mutation on the beta-globin chain. Hb KB is typically clinically silent, and there are limited reports of Hb KB heterozygosity compounded with other hemoglobinopathies that can present with varying clinical phenotypes. Here, we report a case of compound Hb KB heterozygosity with Hb S in an asymptomatic military trainee with a positive sickle cell screening test. Hb capillary and gel electrophoresis predicted a compound Hb S/D-Punjab overlap, which foretells a severe clinical phenotype. Sequencing of the Hb beta gene demonstrated Hb KB, allowing for a diagnosis that fit his asymptomatic clinical phenotype and allowed for retention in the military.

摘要

科勒-布血红蛋白(Hb KB)是一种罕见且可能未被充分报道的血红蛋白(Hb)变异体,由β-珠蛋白链上的异常点突变引起。Hb KB通常在临床上无明显症状,关于Hb KB杂合性与其他血红蛋白病合并出现且表现出不同临床表型的报道有限。在此,我们报告一例无症状军事学员中Hb KB与Hb S复合杂合性的病例,该学员镰状细胞筛查试验呈阳性。Hb毛细管电泳和凝胶电泳预测为Hb S/D - 旁遮普重叠复合类型,这预示着严重的临床表型。对Hbβ基因进行测序证实存在Hb KB,从而做出了符合其无症状临床表型的诊断,并使其能够继续留在军队服役。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffac/11236362/ba33924edbbc/jh-13-116-g001.jpg

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