Associated Papers
Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis.
Belmokhtar I et al.
Clinical Biochemistry, 2025
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
Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.
Arpaci A et al.
Annals of Hematology, 2021
Prenatal Genetic Counseling in a Chinese Pregnant Woman With Rare Thalassemia: A Case Report.
Zhong L et al.
Frontiers in Genetics, 2021
Unexpected Genotype in a Non-Transfusion Dependent Thalassemia Family.
Curcio C et al.
Journal of Medical Cases, 2020
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.
Patsali P et al.
Journal of Clinical Medicine, 2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
30840646 (PubMed )
Supplement: pone.0212228.s002.pdf
Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance.
Grimholt RM et al.
Hemoglobin, 2018
β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.
Wu L et al.
Molecular Medicine Reports, 2017
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
Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.
Vinciguerra M et al.
Hemoglobin, 2016
A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting beta thalassemia carriers at birth by quantitative estimation of the HbA fraction.
Mantikou E et al.
Clinical Biochemistry, 2009
HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene.
Vinciguerra M et al.
Hemoglobin, 0
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