Associated Papers
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Byrou S et al.
International Journal of Molecular Sciences, 2025
39859286 (PubMed )
Supplement: ijms-26-00570-s001.zip › Supplementary.pdf
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
37194736 (PubMed )
Supplement: supplement_1.zip › Supplementary_table_2.xlsx › ____3
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
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › HBB
Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.
Samha L et al.
Hemoglobin, 2020
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Belisário AR et al.
Hemoglobin, 2020
Use of an automated pyrosequencing technique for confirmation of sickle cell disease.
de Martino CC et al.
Plos One, 2019
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).
Turner A et al.
Bmc Medical Genetics, 2016
β-Thalassemia Mutations in Jamaica: Geographic Variation in Small Communities.
Serjeant GR et al.
Hemoglobin, 0
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