A new silent hemoglobin variant in a black family from French West Indies Hemoglobin Le Lamentin α20 His → Gln

AbstractA new abnormal hemoglobin Hb Le Lamentin α20 (B1) His→Gln was discovered during a survey of cord blood from the French West Indies (Martinique). This variant displays an electrophoretic pattern similar to that of Hb A but can be isolated by isoelectric focusing (IEF) and Biorex 70 chromatography. Family studies showed the presence of this hemoglobin variant in the father and in two of his three children. Hematological data from the carriers were normal

The European Hematology Association Roadmap for European Hematology Research: a consensus document

The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at €23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine ‘sections’ in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients

The European Hematology Association Roadmap for European Hematology Research. A Consensus Document

Abstract The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at Euro 23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine sections in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients. Received December 15, 2015. Accepted January 27, 2016. Copyright © 2016, Ferrata Storti Foundatio

Les substituts de globules rouges (passé, présent, futur)

La transfusion de concentrés globulaires rouges est considérée comme un acte thérapeutique à risque par l'ensemble de la communauté médicale. Néanmoins, elle demeure nécessaire dans un grand nombre de situations chirurgicales ou d'urgence. Pour pallier aux risques infectieux et immunologiques, les chercheurs tentent depuis de nombreuses années de proposer des substituts de globules rouges. Parmi ceux-ci, les solutions d'hémoglobine et les émulsions perfluorées ont fait l'objet de nombreuses études scientifiques et cliniques. L'historique de ces produits, leurs développements récents, leurs qualités et leurs défauts sont étudiés. Ce travail propose ensuite la mise en oeuvre d'une nouvelle génération de molécules fluorées, modèlisées pour être plus efficaces qu'une émulsion standard et pour être totalement hydrosolubles. Le cahier des charges et la chimie de ces produits sont présentésPARIS12-CRETEIL BU Médecine (940282101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Interprétation des hyperferritinémies à l'heure du diagnostic de l'hémochromatose génétique

Depuis dix ans l'identification de la mutation C282Y a bouleversé la stratégie diagnostique de l'hémochromatose. De nombreux progrès, réalisés tant sur les plans moléculaire qu'épidémiologique, ont permis d'identifier une nouvelle entité, l'hépatosidérose dysmétabolique. Nous montrerons, en nous appuyant sur une revue de la littérature, l'importance jouée par le syndrome métabolique au niveau du spectre des surcharges en fer. Nous tenterons de donner une stratégie diagnostique quant à l'identification des surcharges en fer à partir de cette anomalie biologique potentiellement fréquente en médecine générale qu'est l'hyperferritinémie. Nous essaierons également de dégager les enjeux thérapeutiques soulevés autour de ce thème. Nous étudierons le spectre des surcharges en fer au sein d'une cohorte de patients traités par saignées ; nous identifierons les circonstances de découverte qui mènent au diagnostic des surcharges en fer, en tentant de confronter l'état des connaissances et des recommandations à l'état des pratiquesSince ten years, the discovery of the homozygote C282Y mutation in the HFE gene, allowed to improve knowledges about iron metabolism, epidemiology of haemochromatosis and simplified the diagnosis of this disease. In the same time, Insulin-Resistance related hepatic iron overload (IRHIO) was described. Hyperferritinemia and iron overload related to the metabolic syndrome might be quite frequent in the general adult population, in everydays physicians' practising. We will describe the aetiological spectrum of iron overloads in a cohort of phlebotomized patients, regarding phenotype and genotype data. We will try to underline the importance of the dysmetabolic pathway in such a cohort. We will examine then, the circumstances that leed to the dagnosis of iron overload, and will confront physicians' practises to the official recommandationsPARIS12-CRETEIL BU Médecine (940282101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Modeling the public health impact of voxelotor in the management of sickle cell disease in France.

Sickle cell disease (SCD) is an inherited blood disorder in which sickle hemoglobin (HbS) polymerizes, leading to red blood cell sickling and chronic hemolytic anemia, vaso-occlusive crises, and end-organ damage associated with early mortality. Despite standard of care, patients with SCD still experience complications and early mortality, highlighting remaining unmet treatment needs. Voxelotor is a first-in-class HbS polymerization inhibitor approved by the US Food and Drug Administration as a treatment for SCD and by the European Medicines Agency for hemolytic anemia due to SCD. In clinical studies, voxelotor has been shown to increase hemoglobin (Hb) and decrease hemolytic markers in patients with SCD. The objective of this study was to estimate the impact of voxelotor on the burden of SCD in France using a modeling approach, accounting for its anticipated adoption and diffusion over the next 5 years. We designed a sequential multi-cohort model to project and compare the cumulative incidence of SCD complications over a 20-year time horizon in a world with and without voxelotor. A distribution of patients was simulated across various levels of Hb response based on the phase 3 HOPE trial results, and relative risk reduction was adjusted using published meta-analysis results that projected risk reduction due to a 1 g/dL increase in Hb. In 6100 modeled patients with SCD treated with voxelotor, the model projected the number of deaths to decrease by 39.4%, with an increase of 1.8% in life-years gained. The model also projected life expectancy to increase by 15.8%, and incident cases of stroke, pulmonary hypertension, and chronic kidney disease to decrease by 19.8%, 24.5%, and 25.1%, respectively. The model suggests that improving Hb using a treatment such as voxelotor may have a positive public health impact by reducing the burden of SCD for patients and the healthcare system