Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.

doi:10.1080/16078454.2023.2187155

Article

Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.

Hematology (Amsterdam, Netherlands) - 1 Dec 2023

Hantaweepant Chattree, Suktitipat Bhoom, Pithukpakorn Manop, Chinthammitr Yingyong, Limwongse Chanin, Tansiri Nawaporn, Sawatnatee Surasak, Takpradit Chayamon, Rotchanapanya Wannaphorn, Pongudom Saranya, Charoenprasert Kanyaporn, Paiboonsukwong Kittiphong, Thamprasert Wichuda, Nolwachai Narumol, Rattanasawat Wanlapa, Sae-Aeng Busakorn, Khorwanichakij Nisachon, Saetow Putchong, Saengboon Supawee, Kamjornpreecha Krittichat, Pholmoo Wikanda, Dujjawan Boonyanuch, Siritanaratkul Noppadol

Abstract excerpt

OBJECTIVES: Clinical manifestations of patients with Hemoglobin E/beta-thalassemia vary from mild to severe phenotypes despite exhibiting the same genotype. Studies have partially identified genetic modifiers. We aimed to study the association between rare variants in protein-coding regions and clinical severity in Thai patients. METHODS: From April to November 2018, a case-control study was conducted based on...

Topics

Humans
beta-Thalassemia
Case-Control Studies
Exome Sequencing
Hemoglobin E
Mutation
Southeast Asian People

Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.

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