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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. ...
Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil
(2017-01-02)
β-Thalassemia (β-thal) is a hemolytic anemia that is caused by point mutations in most cases. The Brazilian population is highly heterogeneous and knowledge of the mutations that make up the genotypic profile of individuals ...
Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
(Taylor & Francis, 2013-06)
We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: ...
Caracterização da expressão gênica em suínos em condição de osteocondrose
(Universidade Federal de Mato GrossoBrasilFaculdade de Agronomia, Medicina Veterinária e Zootecnia (FAMEVZ)UFMT CUC - CuiabáPrograma de Pós-Graduação em Ciências Veterinárias, 2012-02-29)
Osteochondrosis (OC) is seen as the main cause of leg weakness in pigs,
leading to economic losses and animal welfare concern. The etiology and
pathogenesis of this condition is not fully understood yet, but it has been ...
A phased SNP-based classification of sickle cell anemia HBB haplotypes
(Biomed Central Ltd, 2017)
Background: Sickle cell anemia causes severe complications and premature death. Five common beta-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major ...
Acidente Vascular Cerebral na Hemoglobinopatia SC (HBB glu6val e glu6lys): avaliação de marcadores de prognóstico
(Centro de Pesquisas Gonçalo Moniz, 2016)
O acidente vascular cerebral (AVC) é uma complicação clínica grave da doença falciforme (DF). Poucos estudos avaliaram a velocidade do fluxo sanguíneo cerebral utilizando o Doppler transcraniano (DTC) e marcadores preditores ...