38 documents found, page 1 of 4

Co-Inheritance of alpha-thalassemia and sickle cell disease in a cohort of Ango...

Introdution: Sickle cell disease (SCD) is a recessive hereditary disease and a major global health problem, affecting over 300.000 newborn infants each year, and it is estimated that 75% of these births occur in Sub-Saharan Africa. SCD is a monogenic disease; the clinical manifestations are very heterogeneous due to environmental and genetic factors; in particular, the co-inheritance of alpha-thalassemia and an...

Variants of the PKLR gene are associated with rates of hospitalization in Angol...

Background: Sickle cell anemia (SCA), caused by the c.20 A>T (p.Glu6Val) mutation in the HBB gene, is one of the most prevalent hereditary diseases in Sub-Saharan Africa. Patients with the HbSS genotype exhibit variable phenotypic expressions and disease severity, often reflected in hospitalization rates. Reduced activity of pyruvate kinase (PKR, gene: PKLR), a key enzyme in glycolysis, impacts SCA pathophysiol...

Association between sickle cell trait and Plasmodium falciparum infection

Objectives Sickle cell trait (SCT) remains poorly documented in Guinea-Bissau. We aimed to investigate SCT frequency, its geographic-ethnic distribution, and association with Plasmodium falciparum infection. Methods DNA from 601 dried whole blood samples collected in the 2017 national malaria prevalence survey underwent β-globin genotyping. SCT ( HbAS ) and HbAA distributions were examined across health regions...

Editorial

Characterization of a cohort of Angolan children with sickle cell anemia treate...

Background: Sickle Cell Anemia (SCA) is a monogenic disease, although its severity and response to treatment are very heterogeneous. Objectives: This study aims to characterize a cohort of Angolan children with SCA and evaluate their response to hydroxyurea (HU) treatment and the potential side effects and toxicity. Methods: The study enrolled 215 patients between 3 and 12 years old before and after the adminis...

Building a Lusophone Network of Biobanks and Biological Collections: opportunit...

Biobanks and Biological Collections serve as central infrastructures for fundamental to scientific research and innovation, supporting various scientific fields, such as the preservation of biodiversity, food sciences or biotechnology, and particularly biomedical research. They provide essential resources for innovation and translation in global health, particularly for the development of new biomarkers, therap...

Empowering portuguese-speaking women inTropical Health sciences:the journey of ...

Female participation in science, including biomedical sciences, has increased, but still presents various challenges. The MulhereSTrop network was launched in 2015 to support women scientists in African Portuguese speaking countries (PALOP) inTropical Health.The network has offered workshops on scientific writing and has encouraged scientific article submission, with awards for the best. Through the website, th...

Sickle cell disease and gut health: the influence of intestinal parasites and t...

Parasitic infections are a common problem in developing countries and can intensify morbidity in patients with sickle cell disease (SCD), increasing the severity of anemia and the need for transfusions. It has been demonstrated that both helminths and protozoa can affect gut microbiome composition. On the other hand, the presence of specific bacterial communities can also influence parasite establishment. Consi...

Sickle cell disease: current drug treatments and functional foods with therapeu...

Sickle cell anemia (SCA), the most common form of sickle cell disease (SCD), is a genetic blood disorder. Red blood cells break down prematurely, causing anemia and often blocking blood vessels, leading to chronic pain, organ damage, and increased infection risk. SCD arises from a single-nucleotide mutation in the β-globin gene, substituting glutamic acid with valine in the β-globin chain. This review examines ...

Characterization of a cohort of Angolan children with sickle cell anemia treate...

Background: Sickle Cell Anemia (SCA) is a monogenic disease, although its severity and response to treatment are very heterogeneous. Objectives: This study aims to characterize a cohort of Angolan children with SCA and evaluate their response to hydroxyurea (HU) treatment and the potential side effects and toxicity. Methods: The study enrolled 215 patients between 3 and 12 years old before and after the adminis...