Aneta Neskoromna-Jędrzejczak, Katarzyna Bogusiak, Krzysztof Chojnowski, Marta Robak and Jacek Treliński
HemophiliaB is the third most frequently reported (1/30,000 male neonates) congenital bleeding disorder in Poland [ 1 ]. HemophiliaB is a recessive, X-linked congenital bleeding disorder caused by the deficiency of clotting Factor IX (FIX) in plasma due to genetic mutations on the FIX gene. The main symptoms related to severe hemophiliaB are bleeding into large joints, leading to the so-called hemophilic arthropathy, and disability of the musculoskeletal system. Hemophilia is also associated with bleeding into the temporomandibular joint
4. Mannucci PM, Franchini M. Is haemophiliaB less severe than haemophilia A? Haemophilia 2013; 19: 499P502. doi: 10.1111/hae.12133.
5. Reijnen MJ, Sladek FM, Bertina RM, Reitsma PH. Disruption of a binding site for hepatocyte nuclear factor 4 results in hemophiliaB Leyden. Proc Natl Acad Sci USA. 1992; 89: 6300P3.
6. Nathwani AC, Tuddenham EG, Rangarajan S, et al. AdenovirusPassociated virus vectorPmediated gene transfer in hemophiliaB. N Engl J Med 2011; 365: 2357P65. doi: 10.1056/NEJMoa1108046.
7. Nathwani AC
This case describes a young man with severe haemophilia B who uses the “avoiding” mode of behaviour, leading to isolation and reduced ambulation. Health care providers promoting health change behaviour were able to empower the patient to direct his care toward his desired outcomes. As his self-awareness increases, he begins to use another mode of behaviour: compromising. Thomas- Kilmann’s conflict management framework is a novel approach to bringing two sides together in a working partnership. This challenging case shows the balance between a patient’s self-care and symbiotic interaction with HCPs to achieve successful health outcomes.
1. Cancio MI, Reiss UM, Nathwani AC, et al. Developments in the treatment of hemophiliaB: focus on emerging gene therapy. Appl Clin Genet 2013; 6: 91-101. doi: 10.2147/TACG.S31928.
2. Gringeri A, Ewenstein B, Reininger A. The burden of bleeding in haemophilia: is one bleed too many? Haemophilia 2014; 20(4): 459-63. doi: 10.1111/hae.12375.
3. Schrijvers LH, Uitslager N, Schuurmans MJ, Fischer K.Barriers and motivators of adherence to prophylactic treatment in haemophilia: a systematic review
1. Nathwani AC, Tuddenham EG, Rangarajan S, et al. AdenovirusPassociated virus vectorPmediated gene transfer in hemophiliaB. N Engl J Med 2011; 365: 2357P65. doi: 10.1056/NEJMoa1108046.
2. Nathwani AC, Reiss UM, Tuddenham EG, et al. LongPterm safety and efficacy of factor IX gene therapy in hemophiliaB. N Engl J Med 2014; 371: 1994P2004. doi: 10.1056/NEJMoa1407309.
. Hütter G, Nowak D, Mossner M, et al. LongQterm control of HIV by CCR5 Delta32/Delta32 stemQcell transplantation. N Engl J Med 2009; 360R7S: 692Q8. doi: 10.1056/NEJMoa0802905.
5. Roth DA, Kessler CM, Pasi KJ, et al; Recombinant Factor IX Study Group. Human recombinant factor IX: safety and efficacy studies in hemophiliaB patients previously treated with plasmaQderived factor IX concentrates. Blood 2001; 98R13S: 3600Q6.
6. Zaman SM, Hill FG, Palmer B, Millar CM, Bone A, Molesworth AM, et al. The risk of variant CreutzfeldtQJakob disease
Chandra Khyati, Mavinakote Gowda Triveni, Rini Gopal, Ab. Tarunkumar, Suresh Hanagavadi and Dhoom Singh Mehta
Haemophilia is a rare blood clotting disorder, characteristic features of which include extemporaneous and post-traumatic subcutaneous bleeding and mucosal haemorrhages. Genetic deficiency of coagulation factor VIII results in haemophilia A, while deficiency of factor IX leads to haemophilia B. The most common treatment for haemophilia A is administration of recombinant or plasma-derived factor VIII concentrate, to raise the levels of the deficient factor VIII. Tranexamic acid is also used as an anti-fibrinolytic agent that inhibits plasminogen activators present in oral secretion and stabilises the clot. Administration of factor IX is required in haemophilia B. Treatment leads to increased longevity and quality of life for patients. Dental conditions and treatments are more complicated and uncertain in patients with haemophilia due to bleeding risk, thus restorative dental care is of paramount importance for those with haemophilia. The fear of bleeding during treatment procedures is the primary cause of lack of proper dental care for people with haemophilia in countries with limited health care resources. This case report highlights the significance of clinical examination and investigation, and the importance of proper interaction between a haematologist and the periodontist for correct multidisciplinary and uneventful management of periodontal health of a patient with haemophilia.
1. Coppola A, Windyga J, Tufano A, et al. Treatment for preventing bleeding in people with haemophilia or other congenital bleeding disorders undergoing surgery. Cochrane Database Syst Rev 2015; 2: CD009961. doi: 10.1002/14651858. CD009961.pub2.
2. Neufeld EJ, Solimeno L, Quon D, et al. Perioperative management of haemophiliaB: a critical appraisal of the evidence and current practices. Haemophilia 2017; 23: 821–31.
3. Hampshire Hospital NHS Foundation Trust. Haemophilia treatment plan for abdominal surgery. Clinical guidelines
Introduction: Transgender people face many obstacles to accessing healthcare but cultural changes are likely to increase provision of sex reassignment surgery in countries with sufficient resources. Haemophilia services traditionally focus on providing factor replacement therapy for males and should therefore understand how the care they provide can be adapted to meet the needs of transgender people. Haemophilia is an X-linked congenital bleeding disorder, caused by deficiency of coagulation factor VIII (haemophilia A) or factor IX (haemophilia B). The condition is passed on through carrier females, the majority of whom have a factor level high enough to allow for normal blood clotting. However, around 10% of carrier females are symptomatic and at risk of abnormal bleeding. Case presentation: This case report describes a person with mild haemophilia A who, on first presentation to the haemophilia service, stated he was a transgender person in transition to becoming a male. Haemophilia was diagnosed when heavy bleeding occurred following bilateral mastectomy approximately 25 years previously. He now requested phalloplasty. Management and outcome: Phalloplasty was performed at a hospital geographically separate from the haemophilia centre, requiring careful coordination between the two services. A haemophilia specialist nurse provided education and training about haemophilia and its management to the surgical nurses. Twenty-four-hour support was available from the nurse and a specialist doctor. Preparation and administration of clotting factor was the responsibility of the haemophilia nurse until the surgical team was confident in its use. Clotting factor replacement was managed using standard procedures, successfully maintaining factor VIII above a target level of 100% with a twice daily dose. Surgery went well, but wound healing was delayed, in part, due to persistent bleeding. Discussion: Close collaboration between the haemophilia and surgical teams provided effective prophylaxis of bleeding during a complex
procedure that presented new challenges. Both services now have better understanding of the needs of transgender people.