血红蛋白奥维多（c.115A > G; p.T39A）：导致低氧饱和度的原因。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-08-02 DOI:10.1080/03630269.2024.2382775

Luis Vega López, Alberto Medina, Helena Gil-Peña, Ariana Fonseca Mourelle, Jose Ramón Gutiérrez Martínez

引用次数: 0

摘要

我们报告了一个家族中新出现的低亲和力血红蛋白病（血红蛋白奥维多），该家族成员的血氧饱和度（89%-92%）都很低，其病因是位于第 11 号染色体上的血红蛋白亚基 β 编码基因（HBB 基因）中的一个以前未曾描述过的变体（NM_000518.5：c.115A > G;p.Thr39Ala ）。

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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Hemoglobin Oviedo (c.115A > G; p.T39A): A Cause of Low Oxygen Saturation.

We report a new low-affinity hemoglobinopathy (Hemoglobin Oviedo) in a family with isolated low oxygen saturation (89-92%) caused by a previously undescribed variant (NM_000518.5: c.115A > G;p.Thr39Ala) in the hemoglobin subunit β encoding gene (HBB gene) located on chromosome 11.

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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