Unique Characteristics of the X Chromosome and Related Disorders
This article reviews these unique characteristics and applies their guiding principles in a broad overview to Klinefelter syndrome, ornithine transcarbamylase (OTC) deficiency, hemophilia, and fragile X syndrome.
Rare disease drug company BioMarin put on a show called ‘Hemophilia: The Musical’ performed by teenagers affected by blood disorders.
Publication date: Available online 16 November 2018Source: Blood Cells, Molecules, and DiseasesAuthor(s): Tejasvita Gaikwad, Rutuja Deshpande, Shrimati Shetty
If blood does not clot, life-threatening bleeding can occcur. Find out about how blood clots, how clotting factors work, and how treatment has improved the outlook for people with hemophilia.
ConclusionJoint status of HB patients in Spain is influenced by severity and treatment modality, related to the development of arthropathy, which appears prevalent in OD patients with severe HB. Routine assessment with an imaging tool such as ultrasound and HEAD ‐US system may help to improve joint health by personalizing and adjusting treatment in this population.
Conditions: Haemophilia A; Haemophilia A With Inhibitors; Haemophilia B; Haemophilia B With Inhibitors Intervention: Other: No treatment given Sponsor: Novo Nordisk A/S Not yet recruiting
ConclusionBased on our findings, we conclude that performing WES at the end of the diagnostic trajectory can be of additive value to explain the complete bleeding phenotype in patients without a definite diagnosis after conventional laboratory tests. Discovery of combinations of (novel) genes that predispose to bleeding will increase the diagnostic yield in patients with an unexplained bleeding diathesis.
Journal of Thrombosis and Haemostasis, EarlyView.
Standard prophylaxis dosing based on bodyweight may result in over- or under-dosing due to interpatient variability. Adopting individual pharmacokinetic (PK) based tailoring may improve adherence to treatment guideline, and consequently clinical outcomes. Here we report clinical observations performed across the adoption of individual PK based tailoring in a single center in Japan.