Osmotic gradient ektacytometry: a valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders

E Llaudet‐Planas, JL Vives‐Corrons… - … journal of laboratory …, 2018 - Wiley Online Library
Introduction New generation osmotic gradient ektacytometry has become a powerful
procedure for measuring red blood cell deformability and therefore for the diagnosis of red …

[HTML][HTML] Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia

V Rizzuto, A Mencattini, B Álvarez-González… - Scientific Reports, 2021 - nature.com
Combining microfluidics technology with machine learning represents an innovative
approach to conduct massive quantitative cell behavior study and implement smart decision …

Neonatal haemoglobinopathy screening in Spain

MM Pereira, JLV Corrons - Journal of clinical pathology, 2009 - jcp.bmj.com
The prevalence of variant haemoglobins in Spain is increasing as a result of recent African
immigration. Of the 19 regions of Spain, 13 have more than 1% of residents of African origin …

[HTML][HTML] Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis

…, JLLV Corrons, L Kaestner, M Mañú-Pereira… - …, 2020 - ncbi.nlm.nih.gov
Hereditary spherocytosis (HS) originates from defective anchoring of the cytoskeletal
network to the transmembrane protein complexes of the red blood cell (RBC). Red cells in …

[HTML][HTML] Usefulness of NGS for diagnosis of dominant beta-thalassemia and unstable hemoglobinopathies in five clinical cases

V Rizzuto, TT Koopmann, A Blanco-Álvarez… - Frontiers in …, 2021 - frontiersin.org
Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by
abnormal hemoglobin (Hb) variants with decreased stability. UHs are therefore easily …

Time for change? The why, what and how of promoting innovation to tackle rare diseases–is it time to update the EU's orphan regulation? And if so, what should be …

D Horgan, B Moss, S Boccia, M Genuardi… - Biomedicine …, 2020 - karger.com
Since developments are global in the healthcare arena, more should be done to align EU
and other big markets' regulatory practices for rare disease patients. Notwithstanding efforts …

[HTML][HTML] Heterogeneity of G6PD deficiency prevalence in Mozambique: a school-based cross-sectional survey in three different regions

B Galatas, L Mabote, W Simone, G Matambisso… - Malaria journal, 2017 - Springer
Abstract Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-
linked hereditary enzymatic abnormality that affects more than 400 million people …

[HTML][HTML] Red blood cell membrane conductance in hereditary haemolytic anaemias

P Petkova-Kirova, L Hertz, J Danielczok… - Frontiers in …, 2019 - frontiersin.org
Congenital haemolytic anaemias are inherited disorders caused by red blood cell
membrane and cytoskeletal protein defects, deviant hemoglobin synthesis and metabolic …

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to γ-glutamylcysteine synthetase deficiency in a patient of Moroccan …

MM Pereira, T Gelbart, E Ristoff, KC Crain… - …, 2007 - haematologica.org
A previously undescribed mutation of hereditary γ-glutamylcysteine synthetase (GCS)
deficiency was found in a 5 year old boy of Moroccan origin. He presented with chronic …

5610939 RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP)

R Colombatti, V Gutiérrez-Valle, C Diot-Lefebvre… - …, 2023 - journals.lww.com
Background: Rare Anaemia Disorders (RAD) include a highly heterogeneous group of rare
and ultra-rare haematological conditions. The numbers of RAD patients included in clinical …