Results 21 to 30 of about 6,788 (312)

Rastreamento de hemoglobinas variantes e talassemias com associação de métodos de diagnóstico Tracking of variant hemoglobins and thalassemias by association of diagnosis methodologies

Revista Brasileira de Hematologia e Hemoterapia, 2008
O diagnóstico neonatal de hemoglobinopatias permite a melhoria na qualidade de vida do doente com a implementação de medidas profiláticas, acompanhamento clínico e aconselhamento genético.
Luciane M. S. Melo, Fátima A. M. Siqueira, Agnes C. F. Conte, Claudia R. Bonini Domingos   +3 more
doaj   +1 more source

Hemoglobin S identification in blood donors: A cross section of prevalence

Hematology, Transfusion and Cell Therapy, 2022
Introduction: In Brazil, the sickle cell trait (SCT) has an average prevalence of 4% in the general population and 6–10% among Afro-descendants. Although SCT is highly prevalent, a large segment of the population ignores their status.
Fernanda Lima Kroger, Ianka Cristina Ernesto, Marina Schuffner Silva, Olivia Franco dos Santos, Renato Lourenço de Medeiros, Daniela de Oliveira Werneck Rodrigues   +5 more
doaj   +1 more source

Evidence for multiple structural genes for the γ chain of human fetal hemoglobin [PDF]

, 1968
A sequence with a specific residue at each position was proposed for the γ chain of human fetal hemoglobin by Schroeder et al. (1) after a study in which hemoglobin from a number of individual infants was used.
Dozy, Andrée M., Huisman, T. H. J., Kleihauer, Enno F., Robberson, Barbara, Schroeder, W. A., Shelton, J. Roger, Shelton, Joan Balog   +6 more
core  

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Spectrum of hemoglobin variants in Eastern Indian population; a study of 14,145 cases [PDF]

Al Ameen Journal of Medical Sciences, 2013
Background: Inherited disorders of hemoglobin are extremely common in Indian population ranging from near structurally normal hemoglobins to severe transfusion dependant hemoglobinopathies.
Suprio Ray Chaudhury, Himansu Roy, Nirmal Kumar Bhattacharyya, Palash Kumar Mondal, Pranab Kumar Biswas, Sumit Roy   +5 more
doaj  

Inherited hemolytic disorders with high occurrence of b-thalassemia in Sindhi community of Jabalpur town in Madhya Pradesh, India [PDF]

, 2010
Hereditary hemolytic disorders such as hemoglobin disorders, β-thalassemia syndrome, G6PD deficiency, and ABO and Rhesus blood groups are the most common public health problems in India.
Balgir, RS
core   +1 more source

Clinical complications of G6PD deficiency in Latin American and Caribbean populations : systematic review and implications for malaria elimination programmes [PDF]

, 2014
Background: Although G6PDd individuals are generally asymptomatic throughout their life, the clinical burden of this genetic condition includes a range of haematological conditions, including acute haemolytic anaemia (AHA), neonatal jaundice (NNJ) and ...
Bassat, Quique, Brito, Marcelo, Franca, Gabriel Peixoto, Lacerda, Marcus Vinícius Guimarães de, Melo, Gisely Cardoso de, Monteiro, Wuelton Marcelo, Oliveira, Maria Regina Fernandes de, Peixoto, Henry Maia, Queiroz, Amanda de Lourdes Maciel, Romero, Gustavo Adolfo Sierra   +9 more
core   +2 more sources

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Hemoglobin Kansas found by electrophoretic diagnosis in Brazil Hemoglobina Kansas diagnosticada através de eletroforese no Brasil

Revista Brasileira de Hematologia e Hemoterapia, 2002
Some hemoglobin variants with abnormal oxygen affinity have been reported so far from various regions of the world. They can be classified by their oxygen affinity and 15 variants with low oxygen affinity have been reported.
Claudia R. Bonini-Domingos, Patrícia H.O. Calderan, Fátima A.M. Siqueira, Paulo C. Naoum   +3 more
doaj   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source