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

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

ABSTRACTObjectives 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 a...

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Main Authors: Chattree Hantaweepant, Bhoom Suktitipat, Manop Pithukpakorn, Yingyong Chinthammitr, Chanin Limwongse, Nawaporn Tansiri, Surasak Sawatnatee, Chayamon Takpradit, Wannaphorn Rotchanapanya, Saranya Pongudom, Kanyaporn Charoenprasert, Kittiphong Paiboonsukwong, Wichuda Thamprasert, Narumol Nolwachai, Wanlapa Rattanasawat, Busakorn Sae-Aeng, Nisachon Khorwanichakij, Putchong Saetow, Supawee Saengboon, Krittichat Kamjornpreecha, Wikanda Pholmoo, Boonyanuch Dujjawan, Noppadol Siritanaratkul
Format: Article
Language:English
Published: Taylor & Francis Group 2023-12-01
Series:Hematology
Subjects:
Beta-thalassemia
severity
RVAS
WES
KLF1 mutation
in cis interaction
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2023.2187155

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https://www.tandfonline.com/doi/10.1080/16078454.2023.2187155

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