由新型无义突变 [HBB:c.199A > T] 引起的β0-地中海贫血症。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-02-29 DOI:10.1080/03630269.2024.2322518

John S Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfonsam

引用次数: 0

摘要

我们报告了两例涉及新型β-地中海贫血（β-thal）无义突变（HBB:c.199A > T）的血红蛋白病病例。其中一名患者为 Hb S/β-thal，另一名无关患者为 Hb D-Punjab/β-thal。HBB:c.199A > T 突变在外显子 2 的第 66 个氨基酸密码子（AAA→TAA）处引入了一个过早终止密码子，导致典型的高 Hb A2 β0-thal。

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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β⁰-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].

We report two hemoglobinopathy cases involving a novel β-thalassemia (β-thal) nonsense mutation, HBB:c.199A > T. One patient had Hb S/β-thal, and a second unrelated patient had Hb D-Punjab/β-thal. The HBB:c.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAA→TAA) in exon 2, resulting in typical high Hb A₂ β⁰-thal.

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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