Associated Papers
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
39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf
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
Simultaneous detection of target CNVs and SNVs of thalassemia by multiplex PCR and next‑generation sequencing.
Fan DM et al.
Molecular Medicine Reports, 2019
Two novel α2 gene mutations causing altered amino acid sequences produce a mild (Hb Kinshasa, HBA2: c.428A > T) and severe (HBA2: c.342-345insCC) α-thalassemia phenotype.
Saller E et al.
Hemoglobin, 2015
CODON 30 (-GAG) (α2): hematological parameters in heterozygotes and also patients with Hb H disease.
Yang Y et al.
Hemoglobin, 2013
Simultaneous detection of Hb constant spring (α142, TAA>CAA, α2) and the α2 IVS-I donor site (-TGAGG) deletion by a simple polymerase chain reaction-based method in Iran.
Akhavan-Niaki H et al.
Hemoglobin, 2012
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