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].

Abstract excerpt

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....

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