Hemophilia in the 1990s: Principles of Management and Improved Access to Care (original) (raw)
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Hemophilia A Genetic Disorder: Diagnosis, Treatment And Prognosis
Hemophilia a genetic disorder with patient's inability to stop bleeding. There are two main types of hemophilia, hemophiliaA due to not enough clotting factor VIII and hemophilia B due to not enough factor IX,and acquired hemophilia A (AHA) caused by autoantibodies against clotting factor VIII (FVIII). AHA is associated with malignancy,autoimmune disorders, and pregnancy. Factor IX deficiency can cause interference of the coagulation cascade. People with more severe hemophilia usually suffer more severe and more bleeds than people with mild hemophilia. Complications of hemophilia include deep internal bleeding, joint damage, transfusion induced infection, adverse reactions to clotting factor treatment, and intracranial hemorrhage. Diagnosis of hemophilia can be confirmed by, coagulation screening test, bleeding scores and coagulation factor assay. Gold standard of treatment is rapid treatment of bleeding episodes decreases damage to the body. Prophylactic treatment although high costs, is more effective than on demand treatment. People with severe hemophilia without adequate treatment have generally shortened lifespans. Gene therapy is not currently an accepted treatment for hemophilia.
Patients with Hemophilia and Rare Bleeding Disorders
2017
Inhibitor development is a lifelong challenge for patients with bleeding disorders who received replacement therapy. Most commonly, inhibitor formation was observed in hemophilia a patient, but patients with rare bleeding disorders (RBD) especially patients with deficiency of factor XIII (FXIII) and factor V (FV) can develop an inhibitor against exogenous factors. Several factors considered as risk factors for inhibitor formations in these patients. Genetic risk factors are the main accused that can cause inhibitor formation in hemophilia patients, but are less important in RBDs. In this review study, we searched Medline and Web of Science databases for English sources and the following key words: hemophilia, inhibitor, rare bleeding disorder, a rare inherited disorder, acquired hemophilia, acquired rare bleeding disorders, treatment complication, genetic in hemophilia, polymorphism in rare bleeding disorder, mutation in hemophilia and other required keywords. Hemophilia A (HA) pati...
Hemophilia: a biography on therapeutical approaches
Clinical & Biomedical Research, 2023
The history of hemophilia is ancient, with descriptions dated to the 2nd century AD. The first modern narratives appeared in 1800s, when total blood transfusion was the only available treatment and life expectancy was remarkably low. Advances occurred with the use of plasma and cryoprecipitate, but only the discovered of factor concentrates revolutionized the treatment. The implantation of prophylaxis allowed hemophilic patients to prevent bleeding and the development of chronic arthropathy, although with a significant burdensome with the regular infusions. In the past 20 years, this field has witnessed major improvements, including the development of gene therapy and other pharmacological approaches.
Hematology/Oncology Clinics of North America, 1998
Diagnostic evaluation of our patients with hemophilia A: 17-year experience
Türk Pediatri Arşivi, 2015
Aim: Hemophilia A is a rare inherited bleeding disorder resulting from factor VIII deficiency and is a group of diseases characterized by intra-articular and intramuscular bleeding. In this study, we aimed to retrospectively evaluate the treatment outcomes, demographic and clinical characteristics of our patients who were treated and followed up for last 17 years in our pediatric hematology unit with a diagnosis of Hemophilia A. Material and Methods: The medical records of 83 patients who were diagnosed with Hemophilia A and followed up between 1997 and 2014 in our hospital's pediatric hematology clinic were reviewed retrospectively. The demographic data, prophylaxis state, development of inhibitors and clinical characteristics of the patients were evaluated. Results: When the complaints at presentation were examined, it was found that 27 (32%) patients had hemarthrosis, 24 (29%) patients had ecchymosis and hematoma, 13 (16%) patients had prolonged bleeding after trauma or cut, 10 (12%) patients had gingival, mouth or nose bleeding, 4 (5%) patients had prolonged bleeding after circumcision, 4 (5%) patients had gastrointestinal bleeding, 1 (1%) patient had hematuria. Fifty (60%) patients were considered severe hemophilia A, 20 (24%) patients were considered moderate hemophilia A and 13 (16%) patients were considered mild hemophilia A according to factor activity. Among severe hemophilia A patients, primary prophylaxis was being administered in 2 (2%) patients and secondary prophylaxis was being administered in 40 (48%) patients. Inhibitor positivity was found in 8 (10%) of these patients. It is found that hemophilic artropathy developed in 17 patients and 8 of these 17 patients had undergone radioisotope synovectomy. Conclusions: Treatment of severe bleeding in hemophilia A patients should be performed in hospital and the presence of inhibitor must be investigated in cases of uncontrolled bleeding where adequate doses of factor concentrates have been administered for treatment. In order to decrease the development of inhibitor, prophlaxis should be suggested to patients rather than repetetive treatment when bleeding occurs. The radioactive synovectomy should not be overlooked in countries like ours in which factors can not be used adequately.
Treatment of hemophilia: a review of current advances and ongoing issues
Journal of Blood Medicine, 2010
Replacement of the congenitally deficient factor VIII or IX through plasma-derived or recombinant concentrates is the mainstay of treatment for hemophilia. Concentrate infusions when hemorrhages occur typically in joint and muscles (on-demand treatment) is able to resolve bleeding, but does not prevent the progressive joint deterioration leading to crippling hemophilic arthropathy. Therefore, primary prophylaxis, ie, regular infusion of concentrates started after the first joint bleed and/or before the age of two years, is now recognized as first-line treatment in children with severe hemophilia. Secondary prophylaxis, whenever started, aims to avoid (or delay) the progression of arthropathy and improve patient quality of life. Interestingly, recent data suggest a role for early prophylaxis also in preventing development of inhibitors, the most serious complication of treatment in hemophilia, in which multiple genetic and environmental factors may be involved. Treatment of bleeds in patients with inhibitors requires bypassing agents (activated prothrombin complex concentrates, recombinant factor VIIa). However, eradication of inhibitors by induction of immune tolerance should be the first choice for patients with recent onset inhibitors. The wide availability of safe factor concentrates and programs for comprehensive care has now resulted in highly satisfactory treatment of hemophilia patients in developed countries. Unfortunately, this is not true for more than two-thirds of persons with hemophilia, who live in developing countries.