Globin
Mostrando 1-12 de 1914 artigos, teses e dissertações.
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1. Assessment of serum endocan levels in patients with beta-thalassemia minor
SUMMARY OBJECTIVE: Beta-thalassemia minor is a blood disease caused by a hereditary decrease in beta-globin synthesis, frequently leading to hypochromic microcytic anemia. Formerly called endothelial cell-specific molecule 1, endocan is a proteoglycan released by vascular endothelial cells in many organs. Our aim was to investigate the relationship between
Revista da Associação Médica Brasileira. Publicado em: 2022
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2. Bibliometric analysis of global sickle cell disease research from 1997 to 2017
Abstract Introduction Sickle cell disease is an autosomal recessive genetic disease caused by a single point mutation in the β-globin chain of the hemoglobin. It has been recognized by the World Health Organization as a public health priority since 2006. Methods The Scopus database was used in this study with the search descriptors: “sickle cell” and
Hematology, Transfusion and Cell Therapy. Publicado em: 2022
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3. Association of breast cancer with human papillomavirus (HPV) infection in Northeast Brazil: molecular evidence
OBJECTIVE: The aim of this study is to investigate the presence of human papillomavirus DNA and genotypes in breast cancer and normal breast tissue samples obtained from women from the northeast region of Brazil. METHOD: One hundred three breast cancer samples and 95 normal breast samples, as the non-malignant controls, were studied. DNA extraction was ver
Clinics. Publicado em: 18/10/2018
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4. The role of ClpX in erythropoietic protoporphyria
ABSTRACT Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein. Disruption in the synthesis of these precursors accounts for a number of human blood disorders found in patients. Mutations in genes encoding heme biosynthesis enzymes are associated wi
Hematol., Transfus. Cell Ther.. Publicado em: 2018-06
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5. Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromos
Genet. Mol. Biol.. Publicado em: 02/10/2017
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6. Presence of atypical beta globin (HBB) gene cluster haplotypes in sickle cell anemia patients of India
Rev. Bras. Hematol. Hemoter.. Publicado em: 2017-06
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7. The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes
Abstract Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian
Genet. Mol. Biol.. Publicado em: 03/10/2016
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8. Detecção do HPV em carcinoma espinocelular de assoalho de boca por amplificação da PCR
RESUMO Introdução: Estudos realizados durante os últimos anos permitem considerar a infecção pelopapilomavírus humano (HPV) um fator etiológico para o câncer cervical. Apesar da íntima relação desse vírus com as regiões genitais, outras localizações anatômicas têm sido associadas a tal infecção, inclusive as regiões de cabeça e pescoço
J. Bras. Patol. Med. Lab.. Publicado em: 23/02/2016
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9. Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil
The aim of this study was to determine the frequency of beta S-globin gene (βS globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α3.7kb thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of βS globin carriers in this population. Of the 77 samples analyzed, 17 were Hb S
Genet. Mol. Biol.. Publicado em: 21/08/2015
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10. Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals
Background: Brazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known. The aim of this study was to describe the results of a screening program for alpha-globin gene mutations in a repres
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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11. Haplotype of the βS-globin cluster in patients with sickle cell anemia at a University Hospital in the Triangulo Mineiro, Minas Gerais
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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12. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab region, North-western Indian. Hemoglobin D-Punjab can be inherited in heterozygosis with hemoglobin A causing n
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04