Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

ConclusionThis novelF8 deletion as a cause of haemophilia A did not result in generation of inhibitory antibodies to Factor VIII treatment and may have impact on (prenatal) diagnosis, genetic counselling, and treatment decisions in the affected family as well as in other families diagnosed with thisF8 mutation. Finally, this novel mutation should be included in the panel of known genetic variants inF8 when searching for the genetic etiology in patients suspected of HEMA.
Source: BMC Hematology - Category: Hematology Source Type: research

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CONCLUSIONS:  Within the last decade more patients with severe haemophilia were switched to a prophylactic regimen going along with a moderate increase in factor consumption achieving a low ABR and AJBR. PMID: 31711245 [PubMed - as supplied by publisher]
Source: Hamostaseologie - Category: Hematology Authors: Tags: Hamostaseologie Source Type: research
Anti-hepatitis C virus (HCV) treatment for human immunodeficiency virus (HIV)/HCV co-positive patients with hemophilia A presents numerous problems in terms of safety and effectiveness. The emergence of direct-acting antiviral (DAA) regimens has led to tremendous changes in the management of HIV/HCV co-infection over the past few years, but the application of DAA in patients with hemophilia complicated with HIV/HCV co-infection has rarely been reported. We retrospectively analyzed the clinical course and outcome of hemophilia A patients with HIV/HCV co-infection receiving DAA with a focus on the virological response, chan...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
The objective of this study is to determine the prevalence of CKD and CKD risk factors among older men with moderate and severe hemophilia.Methods: This CKD cohort study is an extension of a U.S. national study sponsored by the American Thrombosis and Hemostasis Network (ATHN). The study, entitled ATHN 1: A Cross-Sectional Analysis of Cardiovascular Disease (CVD) in the Hemophilia Population, began enrollment in 10/2012. Inclusion criteria are men with moderate or severe congenital hemophilia A or B (FVIII or IX level ≤ 5%), age 54-73. Men with an additional bleeding disorder (besides liver dysfunction) were excluded. I...
Source: Blood - Category: Hematology Authors: Tags: 322. Disorders of Coagulation or Fibrinolysis: Poster II Source Type: research
Introduction: Recombinant factor IX Fc fusion protein (rFIXFc) was the first extended half-life FIX product approved in the United States to treat children and adults with hemophilia B. Long-term data from clinical trials have demonstrated the safety and efficacy of rFIXFc as well as an extended dosing interval (once weekly or every 10-14 days based on individual needs); however, real-world data are limited (Wang et al. Haemophilia, 2018; Buckley et al. AMCP NEXUS, 2015). We therefore performed a retrospective chart review to further understand the clinical experience and outcomes associated with real-world treatment of he...
Source: Blood - Category: Hematology Authors: Tags: 322. Disorders of Coagulation or Fibrinolysis: Poster II Source Type: research
ConclusionsThis study suggests that considerable clinical, emotional, and day-to-day disease burden exists in PwHA-WO, even among those with mild and moderate severity. Although joint bleed-related outcomes varied by severity, patients with moderate HA reported joint-related outcomes comparable to those with severe HA. However, limitation of daily activities did not differ by severity. PwHA-WO with mild, moderate and severe HA reported limitation in physical activities, which can impair their QoL. Better understanding of disease burden by severity among PwHA-WO will help in planning future interventions to address these bu...
Source: Blood - Category: Hematology Authors: Tags: 901. Health Services Research-Non-Malignant Conditions: Poster III Source Type: research
ConclusionThis novelF8 deletion as a cause of haemophilia A did not result in generation of inhibitory antibodies to Factor VIII treatment and may have impact on (prenatal) diagnosis, genetic counselling, and treatment decisions in the affected family as well as in other families diagnosed with thisF8 mutation. Finally, this novel mutation should be included in the panel of known genetic variants inF8 when searching for the genetic etiology in patients suspected of HEMA.
Source: BMC Hematology - Category: Hematology Source Type: research
CONCLUSIONS: after transplantation, hemophilia A cure and improved bleeding phenotype of type-3 vWD reduced morbidity and mortality. However, potential graft reinfection with HCV and relapsing HCC cast a shadow over these optimum results. PMID: 29931985 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Haemophilia, EarlyView.
Source: Haemophilia - Category: Hematology Source Type: research
ConclusionsRight‐sided joint procedures were more prevalent than left‐sided procedures. Overall, case‐patients had worse joint ROM compared to control‐patients and published normative values. Geographically, there was regional variation in RS utilization, as the Southeast region had the largest percent of case‐patients.
Source: Haemophilia - Category: Hematology Authors: Tags: Original Article Source Type: research
ConclusionIt is hoped that these recommendations will help to foster equity of haemophilia care throughout Europe.
Source: Haemophilia - Category: Hematology Authors: Tags: Original Article Source Type: research
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