Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.D75H
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HBA1

NM_000558.5:p.D75H

Associated Papers

Molecular and clinical characterization of -α4.2 subtypes in Shenzhen, Southern China.

Wang L et al.

Hematology (amsterdam, Netherlands), 2026

Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.

Qin D et al.

Annals of Medicine, 2025

A Mass Spectrometry-Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots.

Bellad A et al.

The Journal of Molecular Diagnostics : Jmd, 2025

Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.

Wu J et al.

Annals of Hematology, 2025

Genetic analysis of thalassemia in putian: comparative insights into mutation spectra with other global regions.

Yu L et al.

Annals of Hematology, 2025

Detection of Common α-Hemoglobin Variants in Thailand by Using Real-Time PCR with High Resolution Melting Analysis.

Muangpa S et al.

Hemoglobin, 2025

Prevalence and Molecular Characteristics of Hemoglobin Variants in Laibin City, Central Guangxi of Southern China.

Huang YY et al.

Hemoglobin, 2025

The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.

Zhao X et al.

Orphanet Journal of Rare Diseases, 2025

Asymptomatic Co-Inheritance of Hb Leiden (HBB:c.22_24delGAG), Hb Q-Thailand (HBA1:c.223G > C) and Deletional Alpha Thalassemia in a Young Chinese Male.

Ren T et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025

Prenatal Diagnosis and Management of Fetal Anemia Caused by Compound Heterozygous Hemoglobin Q-Thailand and Hemoglobin Constant Spring.

Tongsong T et al.

Fetal Diagnosis and Therapy, 2025

Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan.

Tashfeen S et al.

Plos One, 2025

Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.

Xu J et al.

Frontiers in Genetics, 2025

40697540 (PubMed )
Supplement: Table1.xlsx › _Supplementary_Table_S1

Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.

Yang WJ et al.

Frontiers in Immunology, 2025

SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.

Wei X et al.

Prenatal Diagnosis, 2024

Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.

Wan Y et al.

Journal of Clinical Laboratory Analysis, 2024

39317177 (PubMed )
Supplement: JCLA-38-e25104-s001.xlsx › Mutations

Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.

Long J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

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

Tepakhan W et al.

Scientific Reports, 2024

Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.

Zheng X et al.

Molecular Biology Reports, 2024

Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay.

Shao B et al.

Molecular Genetics & Genomic Medicine, 2024

Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China.

Chen YP et al.

Journal of Blood Medicine, 2024

Hb Q-Thailand heterozygosity unlinked with the (-α4.2/) α+-thalassemia deletion allele identified by long-read SMRT sequencing: hematological and molecular analyses.

Qin D et al.

Hematology (amsterdam, Netherlands), 2023

Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China.

Chen L et al.

Hematology (amsterdam, Netherlands), 2023

Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G).

Li Y et al.

Hematology (amsterdam, Netherlands), 2023

The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.

Feng J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

εγ-Thalassemia, a New Hemoglobinopathy Category.

Oliveira JL et al.

Clinical Chemistry, 2023

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

Haemoglobin analysis of a newborn with haemoglobin Q-H disease.

Li THS et al.

Pathology, 2023

Evaluation of interference from 16 hemoglobin variants on hemoglobin A1c measurement by five methods.

Yang X et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2023

The gene spectrum of thalassemia in Yangjiang of western Guangdong Province.

Liang HF et al.

Frontiers in Genetics, 2023

Hemoglobin profile and molecular characteristics of the complex interaction of hemoglobin Doi-Saket [α9(A7) asn > lys, HBA2:c.30C > a], a novel α2α1 hybrid globin variant, with hemoglobin E [β26(B8) Glu > lys, HBB:c.79G > A] and deletional α+-thalassemia in a Thai family.

Panyasai S et al.

Annals of Medicine, 2023

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

Molecular epidemiological investigation of abnormal hemoglobin in Shaokwan region, southern China.

Yang H et al.

Hematology (amsterdam, Netherlands), 2022

Use of Capillary Electrophoresis Migration Position for the Presumptive Identification of Hemoglobin Variants Prevalent in China.

Xu M et al.

Hemoglobin, 2022

Detection of hemoglobin H disease by long molecule sequencing.

Li Y et al.

Journal of Clinical Laboratory Analysis, 2022

Identification of Hemoglobin Variants Prevalent in China and Their Effects on Hemoglobin A1c Measurements.

Xu A et al.

American Journal of Clinical Pathology, 2022

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Hu P et al.

Npj Genomic Medicine, 2022

35079019 (PubMed )
Supplement: 41525_2021_280_MOESM1_ESM.pdf

Molecular characterization of hemoglobinopathies and thalassemias in Northern Guangdong Province, China.

Ma Z et al.

Medicine, 2021

Molecular basis and diagnosis of thalassemia.

Lee JS et al.

Blood Research, 2021

A Rare Case of Hb H Disease and Systemic Lupus Erythematosus.

Lin QY et al.

Hemoglobin, 2021

Genetic and non-genetic factors affecting hemoglobin A2 expression in a large cohort of Thai individuals: implication for population screening for thalassemia.

Singha K et al.

American Journal of Translational Research, 2021

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Association of Hb Shenyang [α26(B7)Ala→Glu, GCG>GAG, HBA2: c.80C>A (or HBA1)] with Several Types of α-Thalassemia in Thailand.

Panyasai S et al.

Hemoglobin, 2020

α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser (HBA1 or HBA2 c.96G>T or C)] with the α-Thalassemia-1 [- -SEA (Southeast Asian)] Deletion in Thailand.

Panyasai S et al.

Hemoglobin, 2020

Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.

de la Fuente-Gonzalo F et al.

Annals of Hematology, 2019

Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.

Zhang J et al.

Scientific Reports, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."