一名 Hb S/β0 地中海贫血症患者的剪接受体突变 [HBB:c.93-2A > T]。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2024-03-01 Epub Date: 2024-02-15 DOI:10.1080/03630269.2024.2314075

John S Waye, Meredith Hanna, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfonsam

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引用次数: 0

摘要

我们报告了一例 Hb S/β0-thalassemia （Hb S/β0-thal）患者，该患者是 Hb Sickle 突变（HBB:c.20A > T）和 IVS1 标准剪接受体序列突变（AG > TG，HBB:c.93-2A > T）的复合杂合子。这是涉及 IVS1 的 AG 剪接受体位点的第五个突变，所有这些突变都会阻止正常剪接并导致 β0-gal。

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Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β⁰-Thalassemia.

We report a case of Hb S/β⁰-thalassemia (Hb S/β⁰-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (HBB:c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, HBB:c.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause 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