Supachai EkwattanakitSuchada RiolueangVip ViprakasitFaculty of Medicine, Siriraj Hospital, Mahidol University2019-08-282019-08-282018-02-07Hematology. Vol.23, No.2 (2018), 117-12116078454102453322-s2.0-85026851197https://repository.li.mahidol.ac.th/handle/20.500.14594/46950© 2017 Informa UK Limited, trading as Taylor & Francis Group. Objectives: There are more than 200 known mutations found in patients with β-thalassemia, a possibility to identify an unknown or novel mutation becomes less possible. Here, we report a novel mutation in a patient from Thailand who presented with chronic hemolytic anemia. Methods: A comprehensive hematology and DNA analysis was applied in the index patient and her mother. Results: Hematological and hemoglobin analyses were consistent with the clinical diagnosis of Hb E/β 0 -thalassemia. However, we could find only Hb E heterozygous mutation using our common polymerase chain reaction-based mutation detection of the β-globin genes. Furthermore, the molecular analysis demonstrated a novel T-deletion at codon 42 of the second exon of the β-globin gene which we named ‘Hb Yala’ according to the origin of this index family. Discussion: This mutation was assumed to generate a truncated β-globin chain terminating at codon 60 with possible unstable variant leading to a ‘null’ or β 0 -thalassemia. However, the clinical phenotype was surprisingly mild and no other ameliorating genetic factors, including co-inheritance of α-thalassemia and high propensity of Hb F by Xmn I polymorphism, were found. Conclusion: This report has provided evidence that genotype–phenotype correlation in thalassemia syndromes is highly complex and a correct clinical severity classification of thalassemia should be mainly based on clinical evaluation.Mahidol UniversityMedicineArticleSCOPUS10.1080/10245332.2017.1359899