TY - JOUR AB - The types of β‑thalassemia mutations, α‑thalassemia interactions, and Hb F‑associated SNPs have been described in association with variable disease phenotypes. This study aimed to determine the updated spectrum of β‑thalassemia mutations and evaluate the contribution of primary and secondary genetic modifiers and SNPs to disease severity, age at onset, and predicted life expectancy in southern Thai β‑thalassemia patients. A total of 181 β‑thalassemia patients were enrolled and 135 β0‑thalassemia/Hb E patients without α‑thalassemia interactions were divided into three categories according to disease severity, age at onset, and predicted life expectancy. A total of 16 β‑thalassemia mutations were identified in this study, and the three most common β‑thalassemia mutations accounted for 61.4% of all mutations. It was also found that the XmnI polymorphism and rs2071348 were associated with age at onset and the predicted life expectancy. More than 82% of β0‑thalassemia/Hb E patients with CC genotype (XmnI) were 3 years old or younger at onset. Additionally, >90% of the higher predicted life expectancy in β0‑thalassemia/Hb E patients had the T allele of XmnI. Therefore, genetic prediction for age at onset and life expectancy is beneficial and practical during prenatal diagnosis or newborn screening for better genetic counseling and optimal management. AD - Hematology and Transfusion Science Research Center, Walailak University, Nakhon Si Thammarat 80160, Thailand Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand Department of Clinical Pathology and Anatomy, Chumphon Ket‑Udomsak Hospital, Chumphon 86000, Thailand Department of Pediatrics, Vachira Phuket Hospital, Phuket 83000, Thailand Department of Internal Medicine, Hatyai Hospital, Songkhla 90110, Thailand Department of Pediatrics, Suratthani Hospital, Suratthani 84000, Thailand Department of Pediatrics, Maharaj Nakhon Si Thammarat Hospital, Nakhon Si Thammarat 80000, Thailand AU - Nuinoon,Manit AU - Rattanaporn,Patchara AU - Benjchareonwong,Thongchai AU - Choowet,Anuchit AU - Suwanno,Komsai AU - Saekoo,Ngamta AU - Lekpetch,Krongjit AU - Thipthara,Orapan AU - Svasti,Saovaros AU - Fucharoen,Suthat AU - Nuinoon,Manit AU - Rattanaporn,Patchara AU - Benjchareonwong,Thongchai AU - Choowet,Anuchit AU - Suwanno,Komsai AU - Saekoo,Ngamta AU - Lekpetch,Krongjit AU - Thipthara,Orapan AU - Svasti,Saovaros AU - Fucharoen,Suthat DA - 2022/06/01 DO - 10.3892/br.2022.1535 IS - 6 JO - Biomed Rep KW - β‑thalassemia mutations disease severity predicted life expectancy genetic modifiers single nucleotide polymorphisms PY - 2022 SN - 2049-9434 2049-9442 SP - 52 ST - Genetic predictions of life expectancy in southern Thai patients with β0‑thalassemia/Hb E T2 - Biomedical Reports TI - Genetic predictions of life expectancy in southern Thai patients with β0‑thalassemia/Hb E UR - https://doi.org/10.3892/br.2022.1535 VL - 16 ER -