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Hb Florida: A novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype
(Wiley-lissHobokenEUA, 2006)
Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia
(Wiley, 2014-10)
We describe here the molecular and hematological characteristics of novel frameshift mutations in exon 2 of the HBB gene (in heterozygous state) found in two Argentinean pediatric patients with dominant b-thalassemia-like ...
Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report
(Funpec-editora, 2016-01-01)
Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb variants resulting from beta-chain alterations. Generally, alpha-chain Hb variants are caused by point mutations affecting ...
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain
(Wiley Blackwell Publishing, Inc, 2018-06)
Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. ...
Genetic analysis of beta-thalassemia major and beta-thalassemia intermedia in Brazil
(Marcel Dekker IncNew YorkEUA, 1998)
Caracterização de hemoglobina N-Baltimore em doador de sangue de São José do Rio Preto, SP
(Sociedade Brasileira de Patologia ClínicaSociedade Brasileira de PatologiaSociedade Brasileira de Citopatologia, 2003-01-01)
As alterações que envolvem as globinas devem-se a modificações em genes responsáveis pela seqüência e estrutura das cadeias polipeptídicas, bem como aos genes reguladores da síntese destas cadeias. Hemoglobinas variantes ...