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Hemoglobin
international journal for hemoglobin research
Volume 46, 2022 - Issue 4
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Short Communication

A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β0 Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (HBB: c.151A>T) mutation in cis]

, , , , &
Pages 249-252 | Received 27 Nov 2021, Accepted 19 Jan 2022, Published online: 16 May 2022
 

Abstract

β-Thalassemia (β-thal) is caused by mutations on the β-globin genes, causing reduced (β+) or absent (β0) synthesis of the β chains of hemoglobin (Hb). In this report, a 28-year-old male patient with anemia and jaundice, was diagnosed with triple-heterozygous β-thal [an IVS-II-654 (C>T) mutation, a Hb Zürich-Langstrasse (HBB: c.151A>T) mutation and a Hb G-Siriraj (HBB: c.22G>A) mutation] by gene sequencing. However, his electrophoresis pattern was unusual: 90.8% Hb G-Siriraj, 5.9% Hb A2, 3.3% Hb F, no Hb A, no Hb Zürich-Langstrasse. His mother carried a β-thal trait (βAIVS-II-654) having mild anemia, with a classical electrophoresis pattern (95.1% Hb A, 4.4% Hb A2, 0.5% Hb F). His father was heterozygous for Hb G-Siriraj (βAG-Siriraj) but asymptomatic, with a corresponding electrophoresis pattern (63.9% Hb A, 3.5% Hb A2, 32.6% Hb G-Siriraj). In view of the family study results, the Hb Zürich-Langstrasse mutation in the proband was considered a de novo mutation occurring on the βIVS-II-654 allele that he inherited from his mother, resulting in a βIVS-II-654/Hb Zürich-Langstrasse genotype, which should be interpreted as a novel β0 mutation. This report illustrates that mutations in cis can confound genotype-phenotype correlations, therefore, just as DNA testing and Hb analysis, family study is also indispensable to the accurate identification of β-thal mutations.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Data availability statement

The complete data is available from the corresponding author. The data shall be shared on request.

Additional information

Funding

This study was supported by grants from the National Natural Science Foundation of China [81371878, 81902126].

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