具有两个 α-球蛋白基因缺陷（Hb Taybe D HBA1：C.119_121delCCA 突变和 HBA2：C.*94A > G 突变）的复合杂合子巴勒斯坦兄弟姐妹中的严重输血依赖型地中海贫血症

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2024-04-16 DOI:10.1080/03630269.2024.2338850

Nada Assaf, Roba El Zibaoui, Carla Monsef, Tania Abi Nassif, Miguel Abboud, Soha Yazbek

引用次数: 0

摘要

阿尔法和贝塔地中海贫血症是常染色体隐性贫血症，在全球范围内造成严重的发病率和死亡率，尤其是在中东和北非地区，其携带率高达 70%。

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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Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D HBA1: C.119_121delCCA Mutation and HBA2: C.*94A > G Mutation

Alpha and Beta Thalassemia are autosomal recessive anemias that cause significant morbidity and mortality worldwide, especially in the Middle East and North Africa (MENA) region where carrier rates...

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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