23 documents found, page 1 of 3

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Po...

The Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts...

Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study i...

Background Sickle Cell Disorder is Africa’s most prevalent genetic disease. Yet, it remains a neglected condition, with high mortality under-five, and a lack of population-based studies in the region. This is the first of its kind in São Tomé e Príncipe, aiming to estimate the prevalence of sickle cell trait and other haemoglobin variants in women of reproductive age and its associated factors. Methods: We cond...

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a Eur...

Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis sequenced in ten different laboratories. We focused our study on the EGLN1 gene and identified 39 germline missense variants including one gene deletion in 47 probands. EGLN1 encodes the PHD2...

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency ...

Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme defect in the world, affecting more than 500 million people. In Portugal, the average frequency of G6PD deficiency in males was estimated at about 0.5% and since the year 2000 several G6PD-deficient alleles have been identified. The main goal of this study was to improve the knowledge on the molecular heterogeneity of G6...

Newborn screening for sickle cell disease in Europe: recommendations from a Pan...

Sickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinica...

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phospha...

Gene panel sequencing improves the diagnostic work-up of patients with idiopath...

A novel haemoglobin variant mimicking cyanotic congenital heart disease

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated b...

Polymorphic variations influencing fetal hemoglobin levels: Association study i...