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Haematological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Acquired haemophilia can be rapidly fatal if untreated. Prompt treatment with immunosuppression (steroids, cyclophosphamide and rituximab) suppresses antibody formation while haemostatic bypass agents (such as recombinant factor VII) are used to stop bleeding. Treatment is challenging as patients are often elderly and frail. Of those successfully treated, 50% will relapse.
Molecular Approaches Towards the Isolation of Pediatric Cancer Predisposition Genes
Published in John T. Kemshead, Pediatric Tumors: Immunological and Molecular Markers, 2020
Unless there is a specific DNA defect that causes a consistent band change, the isolation of the gene itself does not necessarily indicate that prenatal diagnosis will be available for all families. This has been shown in hemophilia A9 where, even though the factor VIII gene responsible for the phenotype is available, it must still be used in combination with neighboring anonymous DNA probes for maximum effectiveness in counseling.
Limbs
Published in Keith Hopcroft, Vincent Forte, Symptom Sorter, 2020
SMALL PRINT: Rheumatoid factor/anti-CCP antibodies, clotting studies/factor VIII assay, arthroscopy. FBC/ESR/CRP: WCC and ESR/CRP raised in infection, systemic inflammatory conditions; Hb may be reduced in the latter.Uric acid: Once attack has subsided, useful to add weight to clinical diagnosis of gout (especially if considering treatment with allopurinol).Rheumatoid factor may be useful if symptoms suggest possible RA (consider anti-CCP antibodies if rheumatoid factor is negative).X-ray: Essential if fracture suspected. May also reveal OA, avascular necrosis, malignancy and help to distinguish between RA and psoriatic arthritis.Sterile aspiration of joint fluid: To look for pus (septic arthritis), blood (haemarthrosis) and crystals (gout/pseudogout).Clotting studies/factor VIII assay: If haemophilia a possibility.Arthroscopy: May be required urgently in secondary care if trauma has resulted in a haemarthrosis.
New directions to develop therapies for people with hemophilia
Published in Expert Review of Hematology, 2023
Pooja Gogia, Michael Tarantino, Wolfgang Schramm, Louis Aledort
In this expert review, we explore the past, present, and future directions in the treatment of people living with Hemophilia A and B. The new innovative therapies could be revolutionary based on the cost and availability of these products. Though optimistic, one cannot apprehend what the future holds in the next decade or two. Whether it was thousands of people contracting HIV before concentrates were rendered safe or thrombotic risk with the newer agents and more so recently a rather uncharted territory of gene modification, caution must be implemented. Despite all this, the benefits that were not expected with prior therapies are a reality for many. However, more than three-fourths of the world’s hemophilia population still do not get the standard therapy. With the sustained efforts by the World Federation of Hemophilia to provide harmonization of health services worldwide, we still see light at the end of the tunnel and hope to achieve consistency in hemophilia management. With continued innovation in the treatment approaches, the clinician and patient need to make an informed decision individualizing priority and prerequisites. With current ongoing clinical trials, we expect that clinicians with their patients can tailor management assessing phenotype, patient goals both for education and vocation and thus provide optimal therapy so that we can make the life of hemophiliac patients more integrated into the framework of society.
Hemophilia A gene therapy: current and next-generation approaches
Published in Expert Opinion on Biological Therapy, 2022
Steven W. Pipe, Gil Gonen-Yaacovi, Oscar G. Segurado
Hemophilia is classified as a group of X-linked inherited hemorrhagic disorders resulting from the absence of or defects in critical factors in the coagulation cascade [1]. Patients with hemophilia exhibit compromised thrombin generation and fibrin clot formation, which leads to bleeding episodes, most commonly into the joints (hemarthrosis). The 2 main types of hemophilia (A and B) relate to deficiency or dysfunction of the specific clotting factors VIII or IX, respectively, with the severity depending on the level of clotting factor activity. Hemophilia affects mainly males, and hemophilia A accounts for the large majority of cases (~80%), affecting approximately 1 of every 5000 live-born males. Hemophilia B is 5 times less common than hemophilia A, having an incidence of approximately 1 in 30,000 births [2,3]. Over a million people around the world are estimated to have hemophilia, including more than 30,000 in the United States (US) [4]. The prevalence is higher among Whites than Blacks or Hispanics [5].
Cost of hemophilia A in Turkey: an economic disease burden analysis
Published in Journal of Medical Economics, 2021
Simten Malhan, Ergün Öksüz, Bülent Antmen, Muhlis Cem Ar, Can Balkan, Kaan Kavaklı
Hemophilia A is an X chromosome-linked bleeding disorder characterized by the deficiency of clotting factor VIII (FVIII). Hemophilia A has a recessive genetic pattern and is almost always seen in males. The general incidence of hemophilia A is 17.1 (14.8–19.3) in 100,000 male births1. Bleeding episodes involving joints and surrounding soft tissue constitutes the hallmarks of the disease and might lead to arthropathy in the long-term if insufficiently treated2. Randomized clinical trials and real-world evidence have demonstrated that prevention prevents joint bleeding and deterioration of joint status, and primary prevention with FVIII has, therefore, been recognized as the standard of care for individuals with severe hemophilia A in countries with adequate resources. Prophylactic therapy also reduces the incidence of central nervous system bleeds (intracranial and spinal hematoma), which are less common than joint bleeding but much more life-threatening. Additional advantages of prophylaxis vs. on-demand treatment include reduced hospitalizations and absenteeism from school or work, greater participation in social activities and, overall, improved health-related quality-of-life3.