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 -