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Haematological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
As for haemophilia A, the APTT is typically prolonged but it is factor IX that is deficient whereas factor VIII levels are normal. Management is the same as for haemophilia A, but therapy is IV factor IX concentrate. Gene therapy has also recently proven highly effective in haemophilia B.
Genetics
Published in Karl H. Pang, Nadir I. Osman, James W.F. Catto, Christopher R. Chapple, Basic Urological Sciences, 2021
Examples:Lesch‒Nyhan syndrome (recessive).Kallman syndrome (recessive).Haemophilia (recessive).Alport’s syndrome (dominant).
Haematology and oncology
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
Haemophilia A is caused by factor VIII deficiency. It results in haemarthrosis because of bleeding in the joints which fails to stop. As the platelets are normal, there is no increase in petechiae or bleeding time. Prothombin time is normal. There is prolonged APTT which is corrected by addition of plasma but not of serum.
Haemophilia item bank based on International Classification of Functioning, Disability and Health: a systematic review
Published in Hematology, 2023
Bao-Feng Geng, Chun Feng, Shou-Guo Liu, Zhong-Li Jiang, Feng Lin
Haemophilia is a congenital bleeding disorder in which the person is deficient in clotting factor VIII or factor IX and is categorized into haemophilia A and B accordingly. The clinical hallmark of haemophilia is recurrent spontaneous bleeding episodes, as well as cumulative joint and muscle damage. Persons with haemophilia (PWH) experience intra-articular and intramuscular bleeding, which can enormously affect their quality of life [1,2]. Effective management of multisystemic bleeding in PWH necessitates the collaboration of a multidisciplinary team and the utilization of outcome measures that are easily understood by healthcare professionals. Furthermore, the cost associated with the administration of expensive clotting factor therapy to PWH places a significant financial burden on society; thus, the optimization of resource allocation based on outcomes becomes imperative [3]. In light of these considerations, the development of standardized outcome assessments is crucial for patients, physicians and Medicare payers.
Past the tipping point: a qualitative study of the views and experiences of men with haemophilia regarding mobility, balance, and falls
Published in Disability and Rehabilitation, 2022
Stephanie Taylor, Francine Toye, Margaret Donovan-Hall, Karen Barker
The findings from this study provide unique insight into the effect that haemophilia has on men’s lives in relation to the joint damage, reduced mobility and pain caused by a lifetime of recurrent bleeding episodes into joints and muscles and helps us to understand the challenge to their mobility and balance. There is limited qualitative research investigating the experiences of balance and mobility in this aging cohort. This information is increasingly important for health care professionals to understand, as this population with haemophilia is now aging, thanks to improvements in the medical treatments available. With this increase in age, come many co morbidities. Reduced balance and increased risk of falling is one such consequence. With already compromised joint range of movement, arthritis and pain, how persons with haemophilia will deal with the natural effects of aging is important to understand. The risks of trips and falls are significant to the general population, but persons with haemophilia have the additional concerns of further bleeds, fracture and a possible head injury. Health care professionals need to find strategies to help persons with haemophilia to reduce these risks and lead a healthy and fulfilled life well into their 70’s and onwards.
Nanostructured cochleates: a multi-layered platform for cellular transportation of therapeutics
Published in Drug Development and Industrial Pharmacy, 2019
Pravin Shende, Rohan Khair, Ram S. Gaud
In response to injury, factor VIII is activated and separated from the glycoprotein. The activated protein (factor VIII) interacts with factor IX to form a chain of additional chemical reactions that form a blood clot. Deficiency of factor VIII is called as Haemophilia A that causes increase in clotting time which increases the bleeding and causes death of the patient. If factor VIII is administered in the body of the hemophilic patient then bleeding time of the patient reduces. Factor VIII shows poor solubility and poor stability because of its proteineous nature. So, antibodies are developed against such proteins when administered directly into the body. Cochleates are prepared to order to reduce the toxic effect and immune response where no antibodies are produced. Factor VIII-loaded cochleates cause a reduction in the clotting time and help the hemophilic patient to recover from the diseased condition [73].