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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
Haemophilia B is less common than haemophilia A, accounting for 15–20% of cases of haemophilia. It is clinically indistinguishable from haemophilia A, and many of the principles of treatment are the same for both disorders. However, there are a few significant differences.26 FIX is a much smaller molecule than is FVIII and distributes extravascularly; thus, dosage calcuation is different. For FIX, 1 IU/kg will result in an increase in circulating FIX of 1%. The half-life of FIX (approximately 18 hours) is longer than that of FVIII. The incidence of FIX inhibitors is 1–2%, which is considerably less than in haemophilia A. Approximately 40% of patients who develop FIX inihibitors also have allergic reactions (often severe) to any FIX-containing material. In haemophilia B patients who develop inhibitors, response to 1TI regimens is approximately 50%, which is considerably less than the 80–85% response rate to ITI seen in haemophilia A. Desmopressin is not a treatment option for haemophilia B, since it increases FVIII and von Willebrand factor, but not FIX.
Case 82
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
Two sisters (III.2 and III.3, as shown below) attend to be screened for haemophilia B. Their brother (III.1) and uncle (II.1) are known to have severe haemophilia B. Genetic analysis of the brother showed complete failure of amplification by polymerase chain reaction (PCR) of all F9 exons indicating that the defect is a deletion of the whole F9 gene. As large deletions cannot be directly detected by conventional sequencing techniques, a linkage analysis is carried out to detect a restriction fragment length polymorphism (RFLP) in intron 3 of F9 that affects cleavage by the restriction endonuclease XmnI. Depending on whether the polymorphism is present or not, the band sizes amplified by PCR are 124 or 163 bp.
Section 7
Published in Padmanabhan Ramnarayan, MCQs in Paediatrics for the MRCPCH, Part 1, 2017
The keyword is diagnostic. C-reative protein (C-RP) will only indicate inflammation; low C3 may be a feature of some diseases causing arthritis. Synovial fluid analysis indicates the diagnosis in infective and inflammatory conditions like rheumatoid arthritis (RA). In acute septic arthritis, there is a polymorphonuclear predominance and elevated protein levels. The factor IX assay is useful in a child with a haemarthrosis from haemophilia B.
Association of factor expression levels with health-related quality of life and direct medical costs for people with haemophilia B
Published in Journal of Medical Economics, 2022
Tom Burke, Anum Shaikh, Talaha M. Ali, Nanxin Li, Randall Curtis, Daniel-Anibal Garcia Diego, Michael Recht, Thomas Sannie, Mark Skinner, Jamie O’Hara
Haemophilia B (HB) is a rare genetic disorder characterized by excessive bleeding due to insufficient or absent clotting factor IX. People with HB may have some endogenous clotting factor, such that having 5% to <40% of normal factor IX levels are classified as a mild disease, 1–5% is moderate, and having <1% is severe.1 A bleeding prevention strategy with regular prophylactic administration of factor IX therapy is the standard of care for people with HB, particularly those with moderate or severe HB, though the on-demand treatment of bleeding events is used when necessary or preferred by the patient2. The vast majority (92%) of costs associated with HB are from clotting factor treatment costs.3 Lifelong management requirements bear a treatment burden for patients, and breakthrough bleeding events still happen.4–6 Breakthrough bleeding events cause progressive joint damage with profound effects on health-related quality of life (HRQoL), work productivity for employed patients, and subsequent direct and indirect costs to patients and society7–9,10.
Economic burden of hemophilia A and B: a case in Iran
Published in Hematology, 2020
Khosro Keshavarz, Mohammadreza Bordbar, Zeinab Hashemipoor, Farideh Sadat Jalali, Ramin Ravangard
The results showed that a majority of the patients with hemophilia A were in the 10–20 age group (35.75%), unemployed (69.95%), residents of urban areas (83.93%), and had severe type of the disease (62.18%), guidance school education level (32.64%), basic health insurance coverage (99.48%) and social security health insurance coverage (71.50%), but not supplementary health insurance coverage (95.85%), and covered by the Hemophilia Association (75.64%). Also, a majority of hemophilia B patients in this study had more than 30 years of age (45%), moderate type of the disease (63.34%), guidance school education level (45%), basic health insurance coverage (96.66%) and social security health insurance coverage (78.33%), but not supplementary health insurance coverage (90%), and were freelancers (45%) and residents of urban areas (83.34%), and covered by the Hemophilia Association (96.67%) (Table 1).
The benefits of prophylaxis in patients with hemophilia B
Published in Expert Review of Hematology, 2018
Hemophilia severity is classified according to the level of circulating clotting factors (severe < 1%, moderate 1–5%, and mild > 5–< 40% of normal activity), with severe hemophilia characterized by frequent spontaneous bleeding and joint hemarthrosis [3]. Hemophilia B is currently managed using FIX replacement therapy, using either plasma-derived (pdFIX) or recombinant (rFIX) therapies. Currently available FIX concentrates are summarized in Table 1. Treatment may be administered in an episodic/on-demand manner to treat bleeding episodes, prior to surgical interventions, or using a prophylactic regimen, whereby FIX is administered on a regular basis to prevent or reduce bleeds. Prophylaxis is associated with improved patient outcomes, including reduced joint damage (the major long-term complication of hemophilia) [4] and improved quality of life [5]. However, there are a number of barriers to adherence to prophylaxis regimens including the burden of frequent injections [6]. This article will discuss the opportunities and evidence for prophylaxis in hemophilia B, in the context of the recommended treatment guidelines and with regard to FIX replacement therapies, including long-acting rFIX.