显性β地中海贫血：地中海国家地中海贫血症的罕见病因。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2024-07-01 Epub Date: 2024-08-02 DOI:10.1080/03630269.2024.2386067

Cagri Coskun, Sule Unal

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引用次数: 0

摘要

β地中海贫血症是一种单基因疾病，其特征是β-球蛋白链生成减少，有报道称各种类型的突变可导致地中海贫血症表型。另一方面，罕见突变也会影响疾病谱并使其多样化。在本文中，我们介绍了一名来自土耳其的贫血患者，该患者被诊断出患有显性β地中海贫血症，其病因是 HBB 基因第 3 外显子发生了杂合突变。

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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Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country.

Beta thalassemia is one of the monogenic disorders characterized by decreased production of β-globin chains and various types of mutations have been reported to cause thalassemia phenotype. On the other hand, rare mutations also affect and diversify the disease spectrum. Herein, we present an anemic patient from Turkey diagnosed with dominant β thalassemia due to a heterozygous mutation in exon 3 of the HBB gene.

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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