Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H147_*148insFs
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HBB

NM_000518.5:p.H147_*148insFs

Associated Papers

Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand.

Rukwong P et al.

Annals of Medicine, 2025

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.

Tepakhan W et al.

Scientific Reports, 2024

Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25.

Demidova E et al.

Hemoglobin, 2023

Effective screening of hemoglobin Constant Spring and hemoglobin Paksé with several forms of α- and β-thalassemia in an area with a high prevalence and heterogeneity of thalassemia using capillary electrophoresis.

Panyasai S et al.

Heliyon, 2023

Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.

Xinh PT et al.

Molecular Biology Reports, 2022

Thalassemia in Viet Nam.

Bach KQ et al.

Hemoglobin, 2022

Multiplex Quantitative Real-Time Polymerase Chain Reaction and High-Resolution Melting Analysis for Identification of a Couple At-Risk of Having a Newborn with Severe Thalassemia.

Ruengdit C et al.

Hemoglobin, 2021

Hb Athens-Georgia (beta 40(C6) Arg > Lys, HBB:c.122G > A) with a single α-globin gene (Hb H disease) in a Thai family: molecular, hematological, and diagnostic aspects.

Panyasai S et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2021

Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2.

Nuinoon M et al.

Hemoglobin, 2019

Secondary erythrocytosis caused by hemoglobin Tak/β0-thalassaemia disease during pregnancy: A case report.

Tongprasert F et al.

Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2017

First Report of a Chinese Family Carrying a Double Heterozygosity for Hb Q-Thailand and Hb J-Bangkok.

Jiang F et al.

Hemoglobin, 2016

Hemoglobin Variants in Northern Thailand: Prevalence, Heterogeneity and Molecular Characteristics.

Panyasai S et al.

Genetic Testing and Molecular Biomarkers, 2016

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

Symptomatic Erythrocytosis Due to Homozygosity for Hb Luton [HBA2: c.269A>T (or HBA1)] and α-Thalassemia: A Clinical Update.

Oliveira A et al.

Hemoglobin, 2016

Five hemoglobin variants in a double heterozygote for α- and β-globin chain defects.

Singha K et al.

Acta Haematologica, 2014

Hb H disease with various β hemoglobinopathies: molecular, hematological and diagnostic aspects.

Fucharoen S et al.

Hemoglobin, 2012

Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.

Chan OT et al.

American Journal of Clinical Pathology, 2010

Coinheritance of hemoglobin D-Punjab and β0-thalassemia 3.4 kb deletion in a Thai girl.

Panyasai S et al.

Asian Journal of Transfusion Science, 0

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