Výsledky vyhledávání

Akademický článek

EFFECTS OF BCL11A SNPS ON INTERINDIVIDUAL VARIABILITY OF FETAL HEMOGLOBIN INDUCTION IN PATIENTS WITH SICKLE CELL DISEASE TREATED WITH HYDROXYUREA AT THE CENTRO DE HEMATOLOGIA E HEMOTERAPIA DE GOVERNADOR VALADARES

Autor: L Nascimento, NF Silva, KA Boy, R Tognon-Ribeiro, LM Mendonça, APP Santos, CV Rodrigues, RR Sales, PSAS Gerheim, MR Luizon

Publikováno v: Hematology, Transfusion and Cell Therapy, Vol 46, Iss , Pp S39-S40 (2024)

Sickle cell disease (SCD) is an autosomal recessive monogenic disorder that modifies the adult hemoglobin and results in multiple clinical phenotypes. Increases in fetal hemoglobin (HbF) has clinical benefits by reducing the clinical severity of SCD.

Externí odkaz: https://doaj.org/article/0cb73f11f24d485a95d1653f7477f943

Zobrazit plný text záznamu

Akademický článek

INTERACTION BETWEEN HAPLOTYPES OF BCL11A AND HBS1L-MYB, MAJOR QUANTITATIVE TRAIT LOCI FOR FETAL HEMOGLOBIN (HBF) LEVELS, AND INCIDENCE OF CLINICAL PHENOTYPES IN CHILDREN WITH SICKLE CELL ANEMIA

Autor: NF Sillva, LN Oliveira, AR Belisário, MB Viana, MR Luizon, RR Sales

Publikováno v: Hematology, Transfusion and Cell Therapy, Vol 46, Iss , Pp S645-S646 (2024)

Sickle cell anemia (SCA) is a monogenic disease characterized by HbSS genotype with a complex pathophysiology. Fetal hemoglobin(HbF) is the major modifier of clinical phenotypes, and increased HbF levels inhibit polymerization of HbS and ameliorate c

Externí odkaz: https://doaj.org/article/190e9cf6dac5428d88383b4df9cf964b

Zobrazit plný text záznamu

Akademický článek

FREQUÊNCIA DOS GENÓTIPOS DA MUTAÇÃO 844INS68 NO GENE CISTATIONINA BETA SINTASE EM PESSOAS QUE CONTRAÍRAM COVID-19

Autor: ABBD Santos, TF Ribeiro, MR Luizon, CR Bonini-Domingos

Publikováno v: Hematology, Transfusion and Cell Therapy, Vol 46, Iss , Pp S615- (2024)

Introdução/objetivos: O gene da Enzima Cistationina Beta Sintase (CBS) está localizado no braço q do cromossomo 21 e seu produto realiza a conversão de homocisteína em cistationina. A mutação 844ins68 desse gene adiciona o risco do desenvolvi

Externí odkaz: https://doaj.org/article/ebf3cbfff97941deb3e8b2678593a1b5

Zobrazit plný text záznamu

Akademický článek

BCL11A POLYMORPHISMS ASSOCIATED WITH INCREASED FETAL HEMOGLOBIN IN RESPONSE TO HYDROXYUREA TREATMENT IN A COHORT OF PEDIATRIC PATIENTS WITH SICKLE CELL ANEMIA

Autor: BL Nogueira, RR Sales, AR Belisário, G Faria, F Mendes, MB Viana, MR Luizon

Publikováno v: Hematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S276-S277 (2021)

Fetal Hemoglobin (HbF) is a major modifier of clinical events in patients with sickle cell anemia (SCA). Hydroxyurea (HU) improves their clinical course by raising HbF level. There is variability in the response to HU treatment among SCA patients. Ge

Externí odkaz: https://doaj.org/article/058daa60e2cc4430a2df4c7690b7868f

Zobrazit plný text záznamu

Akademický článek

HAPLÓTIPOS DE BCL11A E HBS1L-MYB ASSOCIADOS COM CONCENTRAÇÃO ELEVADA DE HEMOGLOBINA FETAL E INTERAÇÃO ENTRE ESTES LOCI NA PREDIÇÃO DE DESFECHOS CLÍNICOS E HEMATOLÓGICOS EM CRIANÇAS COM ANEMIA FALCIFORME

Autor: RR Sales, BL Nogueira, AR Belisário, F Mendes, G Faria, MB Viana, MR Luizon

Publikováno v: Hematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S286-S287 (2021)

A hemoglobina fetal (HbF) é uma das mais importantes moduladoras do fenótipo da anemia falciforme (AF) por inibir a polimerização da HbS, mecanismo molecular primário na cascata de eventos fisiopatológicos da AF. Polimorfismos no íntron 2 do g

Externí odkaz: https://doaj.org/article/d4020b19f1814d5f9a109e828bab4756

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání