缺失α-地中海贫血和迪拜血红蛋白复合杂合性导致的老年男性HbH疾病（HBA2:c.368A > T）。

IF 1 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2025-08-12 DOI:10.1080/03630269.2025.2544838

T Ruchika Devi, Prasad Dange, Roopam Deka, Rituparna Chetia, Sankappa Sinhasan, Sanjeev Chhabra, Jasbir Kaur Hira, Prashant Sharma

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引用次数: 0

摘要

HbH疾病可能很少由缺失α-地中海贫血和不稳定α-珠蛋白链变异的组合引起。诊断具有挑战性，在症状轻微的病例中可能会延迟诊断。迪拜血红蛋白是一种不稳定的α-珠蛋白链变异，先前报道无症状。我们报告一例74岁男性，由于迪拜血红蛋白的复合杂合性而伴有缺失的α-地中海贫血，患有轻度HbH疾病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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HbH Disease in an Elderly Man Due to Compound Heterozygosity for Deletional α-Thalassemia and Hb Dubai (HBA2:c.368A > T).

HbH disease may rarely be caused by a combination of deletional α-thalassemia and an unstable α-globin chain variant. Diagnosis is challenging and may be delayed in cases with mild symptoms. Hemoglobin Dubai is an unstable α-globin chain variant that was previously reported to be asymptomatic. We report the case of a 74-year-old man with mild HbH disease due to compound heterozygosity for Hemoglobin Dubai with deletional α-thalassemia.

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来源期刊

Hemoglobin 医学-生化与分子生物学

CiteScore

1.70

自引率

10.00%

发文量

审稿时长

3 months

期刊介绍： Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders