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Influence of δβ-thalassemia or regulatory elements in individuals with increased fetal Hb levels in the São Paulo northwest population
(2011-11-16)
Fetal hemoglobin (Hb F), formed by two alpha globin chains (α) and two gamma chains (γ) (α2 γ2), has reduced expression in adults, ranging from 0 to 1% of total hemoglobin. Increased levels of Hb F are due to mutations in ...
Influence of δβ-thalassemia or regulatory elements in individuals with increased fetal Hb levels in the São Paulo northwest population
(2011-11-16)
Fetal hemoglobin (Hb F), formed by two alpha globin chains (α) and two gamma chains (γ) (α2 γ2), has reduced expression in adults, ranging from 0 to 1% of total hemoglobin. Increased levels of Hb F are due to mutations in ...
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 ...
Determination of neutral polymorphisms (frameworks) of the human beta globin gene in beta thalassaemias by PCR/DGGE
(1997-02-01)
Purpose: Considering the importance of type beta thalassaemias as hereditary syndromes of high significance in different populations of Mediterranean origin and, by extension, in the Brazilian population, the objective of ...
Determination of neutral polymorphisms (frameworks) of the human beta globin gene in beta thalassaemias by PCR/DGGE
(1997-02-01)
Purpose: Considering the importance of type beta thalassaemias as hereditary syndromes of high significance in different populations of Mediterranean origin and, by extension, in the Brazilian population, the objective of ...
Thalassemia intermedia as a result of heterozygosis for beta(0)-thalassemia and alpha alpha alpha(anti-3.7)/alpha alpha genotype in a Brazilian patient
(Assoc Bras Divulg CientificaSao PauloBrasil, 2003)
DNAase I hypersensitive site 3 ' to the beta-globin gene cluster contains a TAA Insertion specific for beta(s)-Benin haplotype
(Ferrata Storti FoundationPaviaItália, 2002)
Identification of novel candidate genes for globin regulation in erythroid cells containing large deletions of the human beta-globin gene cluster
(Academic Press Inc Elsevier ScienceSan DiegoEUA, 2006)