Associated Papers
Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families.
Amri Y et al.
Annals of Hematology, 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-HBA1
Prevalence of Alpha(α)-Thalassemia in Southeast Asia (2010-2020): A Meta-Analysis Involving 83,674 Subjects.
Goh LPW et al.
International Journal of Environmental Research and Public Health, 2020
33050119 (PubMed )
Supplement: ijerph-17-07354-s001.zip › ijerph-909078-supplementary › Table_S2._Initial_literature_search_from_Pubmed..pdf
Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene.
Brennan SO et al.
Hemoglobin, 2017
Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.
Farashi S et al.
Hemoglobin, 2016
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: laboratory diagnosis and clinical importance.
Chow A et al.
Pathology, 2013
A molecular tool to assess the pathological relevance of alpha-globin DNA variants.
Qadah T et al.
Pathology, 2012
Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease.
Sroymora S et al.
Hemoglobin, 2012
Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys].
Phylipsen M et al.
Hemoglobin, 2010
Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.
Giordano PC et al.
Hemoglobin, 2010
Interaction between (--SEA) alpha-thalassemia deletion and uncommon non-deletional alpha-globin gene mutations in Chinese patients.
Ma ES et al.
Haematologica, 2001
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