With the developing COVID-19 pandemic, patients with inherited anaemias require specific advice regarding isolation and changes to usual treatment schedules. The National Haemoglobinopathy Panel (NHP) has issued guidance on the care of patients with sickle cell disease, thalassaemia, Diamond Blackfan anaemia (DBA), congenital dyserythropoietic anaemia (CDA), sideroblastic anaemia, pyruvate kinase deficiency and other red cell enzyme and membrane disorders. Cascading of accurate information for clinicians and patients is paramount to preventing adverse outcomes, such as patients who are at increased risk of fulminant bacterial infection due to their condition or its treatment erroneously self-isolating if their fever is mistakenly attributed to a viral cause, delaying potentially life-saving antibiotic therapy. Outpatient visits should be minimised for most patients, however some, such as first transcranial dopplers for children with sickle cell anaemia should not be delayed as known risk of stroke will outweigh the unknown risk from COVID-19 infection. Blood transfusion programmes should be continued, but specific changes to usual clinical pathways can be instituted to reduce risk of patient exposure to COVID-19, as well as contingency planning for possible reductions in blood available for transfusions. Bone marrow transplants for these disorders should be postponed until further notice. With the current lack of evidence on the risk and complications of COVID-19 infection in these patients, national data collection is ongoing to record outcomes and eventually to identify predictors of disease severity, particularly important if further waves of infection travel through the population.
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http://dx.doi.org/10.1111/bjh.16687 | DOI Listing |
Eur Heart J Open
January 2025
Institute of Health Informatics Research, University College London, 222 Euston Road, London NW1 2DA, UK.
Aims: Causes of death remain largely unexplored in the atrial fibrillation (AF) population. We aimed to (i) thoroughly assess causes of death in patients with AF, especially those associated with sudden cardiac death (SCD) and (ii) evaluate the potential association between AF and SCD.
Methods And Results: Linked primary and secondary care United Kingdom Clinical Practice Research Datalink dataset comprising 6 529 382 individuals aged ≥18.
J Health Econ Outcomes Res
January 2025
Ultragenyx Pharmaceutical Inc., Novato, CA, USA.
Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder resulting in potentially life-threatening hypoglycemia, metabolic abnormalities, and complications often requiring hospitalization. This retrospective database analysis assessed the complications, resource utilization, and costs in a large cohort of patients with GSDIa. We conducted a retrospective cohort study of GSDIa patients and matched non-GSDIa comparators utilizing the PharMetrics® Plus database.
View Article and Find Full Text PDFBMC Health Serv Res
January 2025
Department of Clinical Pharmacology and Evidence-Based Medicine, NCJSC "Karaganda Medical University", 40, Gogolya St, Karaganda, 100000, Kazakhstan.
Background: Kazakhstan inherited the Semashko health system model, known for the centralized adoption of rules at the Ministry of Health (MoH) level that regulate the healthcare system. In 2019 MoH established a national framework with indicators aimed at collecting qualitative and quantitative data from healthcare organizations as part of their annual self-evaluation, and biannual external evaluation by the National Research Center for Health Development (NRCHD). The purpose of this study was to pilot the MoH framework on rational use of medicines and evaluate its effects on medicine use practices in health care organizations and at the national level.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus, Groningen, 30001 - 9700 RB, the Netherlands.
Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.
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