Associated Papers
Empowered Prenatal Choice-Making as a Simple Tool to Reduce Disease Burden in Severe Haemoglobinopathies by HBB Gene Variant Analysis, Prenatal Diagnosis and Genetic Counselling.
Singh K et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2026
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
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.
Loh JB et al.
Annals of Hematology, 2024
Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.
Thaker P et al.
International Journal of Laboratory Hematology, 2024
Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.
Mousavi SS et al.
Biomed Research International, 2024
First reported co-occurrence of "GATA1-mutated X-linked thrombocytopenia with thalassemia (XLTT)" with heterozygous β-thalassemia.
Singh N et al.
International Journal of Laboratory Hematology, 2023
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype.
Diamantidis MD et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients.
Ejaz S et al.
Scientific Reports, 2023
Hematological and genetic profiles of persons with co-inherited heterozygous β-thalassemia and supernumerary α-globin genes.
Sundaresan DD et al.
European Journal of Haematology, 2023
Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).
Shamoon R et al.
Hemoglobin, 2023
HBB Gene Mutations and Their Pathological Impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia.
Saad HKM et al.
Diagnostics (basel, Switzerland), 2023
α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh.
Kabir T et al.
Hemoglobin, 2023
Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.
Jiang F et al.
Frontiers in Genetics, 2023
A rare and novel mutation in a beta-globin gene of thalassemia patient of Pakistan: A case report.
Rashid A et al.
Annals of Medicine and Surgery (2012), 2022
Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene.
Targholi S et al.
Hemoglobin, 2022
Hemoglobin Andrew-Minneapolis-Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with β-thalassemia trait: A diagnostic and management conundrum.
Khaire NS et al.
International Journal of Laboratory Hematology, 2022
A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β0 Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (HBB: c.151A>T) mutation in cis].
Liao J et al.
Hemoglobin, 2022
Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia.
Saha D et al.
Hemoglobin, 2022
Frequency of Hereditary Hemochromatosis Gene (HFE) Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level.
Padeniya P et al.
Frontiers in Pediatrics, 2022
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.
Hariharan P et al.
Scientific Reports, 2021
Frequencies of Beta Thalassemia Mutations Show Different Pattern in Bannu Region than Other Parts of Pashtun Population in Khyber Pakhtunkhwa Province Pakistan.
Rehman SU et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2021
The Effect of HBB: c.-121C>T Variant [-71 (C>T)] on the β-Globin Promoter: Case Series Study.
Rafat M et al.
Hemoglobin, 2021
Updated Molecular Spectrum of β-Thalassemia Mutations in Duhok Province, Northern Iraq: Ethnic Variation and the Impact of Immigration.
Atroshi SD et al.
Hemoglobin, 2021
The Prevalence of HBB Mutations among the Transfusion-Dependent and Non Transfusion-Dependent Hb E/β-Thalassemia Children in a Tertiary Center of West Bengal, India.
Saha J et al.
Hemoglobin, 2021
An Autopsy Case of β-Thalassemia Major Illuminating the Pathological Spectrum of the Disease.
Sood R et al.
Hemoglobin, 2021
Molecular Spectrum of β-Thalassemia Mutations in Central to Eastern Thailand.
Panichchob P et al.
Hemoglobin, 2021
HBB mutations and HbA2 level: Escaping the carrier screening programs.
Sharifi A et al.
Clinical Case Reports, 2021
Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations.
Tariq A et al.
Hemoglobin, 2021
Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations.
Aziz MA et al.
Hemoglobin, 2020
CRISPR-mediated gene modification of hematopoietic stem cells with beta-thalassemia IVS-1-110 mutation.
Gabr H et al.
Stem Cell Research & Therapy, 2020
Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.
Mehta P et al.
International Journal of Laboratory Hematology, 2020
β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.
Guzelgul F et al.
Hemoglobin, 2020
Development of the Next Generation Sequencing-Based Diagnostic Test for β-Thalassemia and its Validation in a Pashtun Family.
Sabiha B et al.
Hemoglobin, 2020
Distribution of HBB Gene Mutations in the Kurdish Population of Ilam Province, West Iran.
Moradi K et al.
Hemoglobin, 2020
Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.
Aliyeva G et al.
Annals of Human Genetics, 2020
Detection of Paternal IVS-II-1 (G>A) (HBB: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.
Mortazavipour MM et al.
Hemoglobin, 2020
Establishment of human iPSC line from patient of Indian ethnicity carrying homozygous CD8/9 (+G) beta thalassemia mutation.
Tembe S et al.
Stem Cell Research, 2020
Misdiagnosis of double heterozygous εGγ(Aγδβ)0-thalassemia/β++ thalassemia as homozygous β-thalassemia: A pitfall for molecular diagnostic laboratories.
Singh N et al.
Blood Cells, Molecules & Diseases, 2020
Hb S (HBB: c.20A>T) and α- and β-Thalassemia Coinheritance in Iranian Patients.
Azarkeivan A et al.
Hemoglobin, 2020
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.
Noor FA et al.
Orphanet Journal of Rare Diseases, 2020
Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study.
Shoujaa A et al.
Hemoglobin, 2020
Molecular Heterogeneity of β-Thalassemia in the Kohat Region, Khyber Pakhtunkhwa Province, Pakistan.
Naz S et al.
Hemoglobin, 2020
Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.
Aldakeel SA et al.
Archives of Medical Science : Ams, 2020
Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.
Maskoen AM et al.
Bmc Medical Genetics, 2019