由 Hb Calgary（HBB：C.194G > T）引起的严重贫血早期发病：另一份病例报告。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2024-03-01 Epub Date: 2024-02-12 DOI:10.1080/03630269.2024.2315188

Hua Jiang, Dong-Zhi Li

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引用次数: 0

摘要

不稳定血红蛋白（Hb）变异是导致先天性溶血性贫血的罕见原因。我们描述了一名在婴儿早期出现输血依赖性贫血的中国女孩。直到 5 岁时进行分子检测，她才被确诊为 Hb Calgary [β64(E8)Gly > Val; HBB:c.194G > T]。我们的病例强调了早期基因检测对确诊的重要性，这不仅有助于患者管理和家庭咨询，还能避免不必要的进一步检查尝试。

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Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report.

Unstable hemoglobin (Hb) variants are a rare cause of congenital hemolytic anemia. We describe a Chinese girl who presented with transfusion-dependent anemia in early infancy. Her diagnosis of Hb Calgary [β64(E8)Gly > Val; HBB:c.194G > T] was not made until molecular testing was performed at the age of 5 years. Our case highlights the importance of early genetic testing in order to make the diagnosis, which may not only be useful for patient management and family counseling, but also for avoiding further unnecessary investigative attempts.

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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