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β-Thalassemia (β-thal) is caused by mutations on the β-globin genes, causing reduced (β + ) or absent (β 0 ) 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&gt;T) mutation, a Hb Zürich-Langstrasse ( HBB : c.151A&gt;T) mutation and a Hb G-Siriraj ( HBB : c.22G&gt;A) mutation] by gene sequencing. However, his electrophoresis pattern was unusual: 90.8% Hb G-Siriraj, 5.9% Hb A 2 , 3.3% Hb F, no Hb A, no Hb Zürich-Langstrasse. His mother carried a β-thal trait (β A /β IVS-II-654 ) having mild anemia, with a classical electrophoresis pattern (95.1% Hb A, 4.4% Hb A 2 , 0.5% Hb F). His father was heterozygous for Hb G-Siriraj (β A /β G-Siriraj ) but asymptomatic, with a corresponding electrophoresis pattern (63.9% Hb A, 3.5% Hb A 2 , 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 β IVS-II-654  allele that he inherited from his mother, resulting in a β IVS-II-654/Hb Zürich-Langstrasse  genotype, which should be interpreted as a novel β 0  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.

hemoglobin

A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β 0  Mutation [an IVS-II-654 (C&gt;T) mutation with a Hb Zürich-Langstrasse ( HBB : c.151A&gt;T) mutation  in cis ]