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Haematological Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Haemophilia is one of the severe inherited bleeding disorders. Haemophilia A is due to deficiency of factor VIII and is more common than haemophilia B (deficiency of factor IX). Both disorders are inherited in an X-linked manner and result in a similar clinical phenotype (see Figure 15.5).
HIV and AIDS
Published in Rae-Ellen W. Kavey, Allison B. Kavey, Viral Pandemics, 2020
Rae-Ellen W. Kavey, Allison B. Kavey
And a week after that, the CDC reported three cases of opportunistic PCP in individuals with hemophilia but with no other underlying disease. All three were heterosexual males who had received repeated injections of factor VIII concentrate to stop uncontrolled bleeding. To treat clotting factor deficiencies like those found in hemophiliacs, pooled concentrates of the missing factor from hundreds of donors are needed. None of these three patients had a history of homosexual contact or intravenous drug abuse, but two patients who were specifically tested had evidence of cellular immune deficiency and all had lymphopenia. The CDC editors of the report wrote,The clinical and immunologic features of these three patients are strikingly similar to those recently observed among … homosexual males, heterosexuals who abuse IV drugs, and Haitians who recently entered the United States. Although the cause of the severe immune dysfunction is unknown, the occurrence among the three hemophiliac cases suggests the possible transmission of an agent through blood products.13
Congenital and acquired disorders of coagulation
Published in Jennifer Duguid, Lawrence Tim Goodnough, Michael J. Desmond, Transfusion Medicine in Practice, 2020
Jeanne M Lusher, Roshni Kulkarni
Inhibitor antibodies to FVIII develop in approximately 30% of persons with haemophilia A. Most appear early in life, after a median of 9–11 exposure days to FVIII.17,18 Most are in persons with severe haemophilia, although some develop in moderately (or even mildly) affected individuals. Factors putting a haemophiliac at increased risk of inhibitor formation include certain defects in the FVIII gene causing the individual’s haemophilia (large gene deletions, frameshift mutations, stop codons, etc.), race (African descent), and having a haemophilic brother who has an inhibitor.17
Intra-articular injection of platelet-rich plasma in patients with hemophilia and painful knee joint cartilage degeneration
Published in Expert Review of Hematology, 2023
Hemophilia is a rare congenital bleeding disorder caused by deficiency of clotting factor (F) VIII in hemophilia A (the most common form of the disease) and of FIX in hemophilia B. Hemophilia is mainly manifested as prolonged bleeding in the musculoskeletal system (joints and muscles) and, less frequently, in the mucosa and brain [1]. Hemorrhages usually occur in the absence of definite trauma when FVIII or FIX levels are less than 1 IU/dL. In these cases, approximately 80% of the hemorrhages are intraarticular, and two-thirds occur in the knees, elbows and ankles. People with hemophilia (PWH) with FVIII or FIX levels above 1 IU/dL might also experience bleeding (including joint bleeding), although these are usually caused by exertion or trauma [2]. Joint hemorrhages activate a complex and poorly understood set of responses that result in proliferation of synoviocytes and endothelial cells within the synovial membrane and destruction of articular cartilage, leading to chronic, debilitating arthritis [3–34].
Value of 3.0T MRI T2 mapping combined with SWI for the assessment of early lesions in hemophilic arthropathy
Published in Hematology, 2022
Lu Zhang, Shufang Wei, Jiajia Li, Pengming Wang, Ge Yinghui
Hemophilia is an X-sex chromosome recessive bleeding disorder. It is divided into two types, i.e. hemophilia A (factor VIII) and hemophilia B (factor IX), depending on the lack of clotting factors. The thickening of the synovial membrane stimulated by synovitis causes more joint bleeding, and the blood metabolite hemosiderin promotes the thickening of the synovial membrane, leading to the erosion of articular cartilage, and forming a vicious cycle of joint bleeding - synovitis - joint bleeding [7]. Furthermore, repeated synovitis with an accumulation of destructive enzymes and cytokines can destroy cartilage and subchondral bone [8]. In advanced stages, joint ankylosis and deformity may also occur, causing great pain and high disability rates. As the most common target joints are the knee [9], ankle [10], and elbow [11], in the present study, we focused on knee joints.
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
The modification and transfer of genetic material to compensate for abnormally mutated genes is referred to as gene therapy. The aim of gene therapy is to treat or even prevent genetic diseases by inducing long-term expression of the transferred gene at therapeutic levels [78,79]. Hemophilia is a hereditary disorder whose genetics are well understood, making it an ideal target for gene therapy. Further, because the severity of the bleeding phenotype is relatively insensitive to the plasma levels of the coagulation factors, precise regulation is not necessary. The greatest limitation of the currently available treatments is related to their short therapeutic half-life, resulting in frequent intravenous infusions and leading to intense efforts to develop more effective gene therapy strategies [71,80–85].