Sagir G. Ahmed, Umma A. Ibrahim, Modu B. Kagu and Usman A. Abjah
Haemophilia A is an X-linked recessive disorder associated with deficiency of coagulation factor VIII and lifelong bleeding diathesis. Sickle cell trait (SCT) is the heterozygous state for the sickle β-globin gene. The frequency of SCT is up to 30% in Africa, wherein it confers survival advantage by providing resistance against severe malaria. SCT does not cause vaso-occlusive crisis, but is associated with high risk of venous thromboembolism as variously reported in the literature. We consider SCT as a hypercoagulable prothrombotic state and hypothesise that coinheritance of SCT may ameliorate the clinical phenotype of severe haemophilia. We conducted a retrospective analysis of frequencies of spontaneous bleeding among severe haemophiliacs with SCT (Hb AS phenotype) and their counterparts with normal Hb phenotype (Hb AA phenotype) in order to determine the possible ameliorating effect of SCT on spontaneous bleeding rates in severe haemophilia A. If our hypothesis is correct, severe haemophiliacs with SCT will have lower frequencies of spontaneous bleeding than their counterparts with normal Hb phenotype. Our results revealed that severe haemophiliacs with normal Hb phenotype had significantly higher mean annual bleeding episodes per patient in comparison with their counterparts with SCT (45±7 vs 31±5, p=0.033), suggesting that severe haemophiliacs with SCT had lower frequencies of spontaneous bleeding episodes. The result of this study indicates that coinheritance of SCT in patients with severe haemophilia may be associated with reduced frequency of spontaneous bleeding, which may imply better overall prognosis. However, the study has important limitations, which include its retrospective nature and the very low number of subjects. The findings should therefore be validated by a larger and prospective study.
Lorraine M. Flaherty, Brian P. Flaherty, Rebecca Kruse-Jarres and Barbara A. Konkle
Risk factors for falls in the general population are frequently identified in patients with haemophilia. Screening for fall risk can help prevent significant injury in populations with high rates of falls and associated complications. We aimed to describe the rates of falls, injurious falls, near falls, and activity restriction due to fear of falling in a population of adults with haemophilia, an inherited bleeding disorder. Subjects completed a questionnaire inquiring about fall history over the previous 12 months at study onset (time 1) and again approximately 12 months later (time 2). In all, 75 patients with haemophilia between the ages of 18 and 85 participated. The annual fall rate was 33% at time 1, and 23% at time 2. 13% of subjects reported recurrent falls. The annual fall injury rate was 15% at time 1, and 16% at time 2. 63 % of subjects reported near falls at time 1, and 49% at time 2. 16% of subjects reported activity restriction due to fear of falling at time 1, and 21% at time 2. Rates of falls, recurrent falls, and fall-related injury in haemophilia patients in this study are similar to or higher than those found in community-dwelling adults aged 65 years and older, although our subjects were younger on average. These high rates were reported across all disease severities. Near falls were common among all subjects and rates of activity restriction were generally lower than those reported in older adults living in the community. Results should be replicated. Haemophilia patients should be questioned about fall history and further research into optimal fall risk prevention in this population is warranted.
Glanzmann’s thrombasthenia is a rare autosomal recessive bleeding syndrome characterised by a lack of platelet aggregation. This case study considers a young woman affected by this disease, integrating the role her culture plays in her medical management. Fatima (patient renamed for the purposes of this case study) is a 16-year-old girl with Glanzmann’s thrombasthenia and heterozygous factor XIII deficiency, complicated by menorrhagia and a history of packed red blood cell (PRBC) transfusion for symptomatic anemia, with subsequent development of red blood cell (RBC) antibodies. Management has included years of working on hormone control, as well as dealing with the side-effects of such treatment, and starting NovoSeven (Novo Nordisk) recombinant factor VII infusions along with factor XIII replacement (Corifact; CSL Behring) via the use of a peripherally inserted central catheter (PICC), following set-backs related to hormone control. Glanzmann’s thrombasthenia had its first true impact on Fatima at the onset of her menstrual cycle, just prior to the start of her teenage years. Her first menstrual cycle resulted in her admission to the intensive care unit (ICU), where emergency measures were required to save her life. When options to help Fatima began to diminish, Corifact was initiated to correct her factor XIII deficiency, thus allowing the cross-linking of fibrin to form a more stable clot. Fatima is Arab American of Palestinian descent. She has undergone HLA testing and evaluation for bone marrow transplant, however no matches have been identified to date. The family has had another child with intention of saving cord blood, but Fatima’s transplant team has determined that better matches are likely to be found in unrelated donors. Pregnancy for Fatima is very high risk and believed to be life-threatening for her, which plays a very significant role in her life as a young Arab American woman.
Kate Khair, Mahmoud Abu-Riash, Ana Claudia Acerbi, Marlene Beijlevelt, Georgina Floros, Kuixing Li, Ljiljana Rakić, Bongi Mbele, Robyn Shoemark and Jim Munn
Haemophilia nursing roles continue to develop alongside nursing as a profession. There are now nurses who practice autonomously, much like a medical practitioner, and many who have extended their roles to deliver direct patient care, education and research. There has been little, if any, comparison with haemophilia nurse roles internationally, nor of the impact of these roles on patient reported outcomes. This paper reports the results of an international survey, of 297 haemophilia nurses from 22 countries, describing current day practice and care. Many nurses work above and beyond their funded hours to improve care through research and evidence-based practice. While some are able to attend international meetings to report and discover this evidence, many due to financial constraints, are not. Others reported difficulty with communicating in English, which limited congress attendance. With on-line learning capability, sharing of best practice is now possible, and this approach should be a platform developed in coming years to further enhance haemophilia nursing practice and ultimately patient care.
Wider access to modern treatment of haemophilia has led to a growing interest in the family’s role in management. An increasing amount of research has sought to understand the psychosocial impact of living with a child with haemophilia. Understanding how such demands affect parents and families who live with the daily threat of bleeding can help health professionals to provide effective support. A literature review was undertaken with the aim of summarising the key findings from studies published since 2000. The literature review describes many common themes from observational studies that were generally consistent with those emerging from interviews of parents of children with haemophilia. Few intervention studies were identified. Overall, this evidence shows that raising a child with haemophilia can be challenging for parents and the family. Quality of life is impaired in the parents of a child with haemophilia and that many aspects of life are affected. However, providing care can also be rewarding and programmes of support, education and appropriate treatment evidently improve the well-being of parents and families.
Piet de Kleijn, David Sluiter, Kathelijn Fischer, Charles Vogely, Eveline P. Mauser-Bunschoten and Roger Schutgens
This paper presents a long-term follow-up (mean 6 years) of three cases, providing insight into individual changes in self-reported activities of persons with haemophilia (PWH) who underwent multiple joint procedures (MJP). The procedures include one bilateral ankle pan arthrodesis by means of an ankle arthrodesis nail (case 1) and two times bilateral total knee arthroplasty (TKA), both type Genesis II (cases 2 and 3). MJP are defined as any combination of total hip arthroplasty (THA), total knee arthroplasty (TKA) and ankle arthrodesis (AA) during one hospital admission (one session or staged). The results of MJP need meticulous long-term follow-up, including tools with the capacity to provide detailed measurements for levels of activity. Measurements performed before and after surgery included active range of motion (AROM), the Hemophilia Activities List (HAL) sub-scores for basic and complex lower extremity and the McMaster Toronto Arthritis patient disability questionnaire (MACTAR). Pain scores were only available post-surgery and were by means of a visual analogue scale (VAS), 0 indicating no pain and 10 maximum pain. Post-operative VAS scores were 0.3 on average (range 0-1), indicating only minimal pain. Pre-operative pain was the actual indication for MJP. However, it was measured with a different score, the WFH score. Regarding post-operative AROM, case 1 showed a decreased ankle plantar flexion averaging 15˚ (range 10-20˚) and dorsiflexion averaging 7.5˚ (range 5-10˚), results expected after surgical fixation of the tibiotalar joint. Cases 2 and 3 showed an increased active flexion of both knee joints, on average 6° (range 5-10˚), and extension of 11° (range 0-20˚). From these two cases the HAL showed improvement in both basic (Δ 40 and Δ 30) and complex lower extremity (Δ 40 and Δ 3,5) activities. When considering the standard deviations of the HAL normalised total score of 18, it can be appreciated that these improvements are clinically relevant (effect size Δ 1). The MACTAR showed individual progress, with emphasis on walking, standing, riding a bicycle and walking stairs. These MJP cases provide insight on the benefits of self-reported activities, as well as the relationship between body and activity of the ICF. For the long-term follow-up of this very specific population, self-reported activities should be included.
People with haemophilia may neglect their oral hygiene due to the fear of bleeding during brushing, leading to an increase in dental caries, gingivitis and periodontitis in this group. The available literature shows very few studies on the oral health status of children with haemophilia. The aim of the current study, therefore, was to assess the oral health status of children with haemophilia in comparison with healthy children. Data were collected from a study and control groups of haemophilic and healthy children aged 6-16 years. All children were examined under standardised conditions by a single qualified examiner and Plaque Index (PI), Modified Gingival Index (MGI) and permanent decayed, missing, and filled teeth (DMFT) and primary dmft index were recorded. A questionnaire distributed to the parents was analysed using Chi-Square and Kruskal-Wallis test, and showed a significant difference in GMI and DMFT and dmft scores between the study and control groups, a lower level of parental education level in the study group, a difference in the frequency of tooth brushing between the two groups, and a statistically higher frequency of sugar consumption among the children with haemophilia. The study concluded that children with haemophilia have poor oral health status compared to healthy children. Parental education levels, beliefs and attitude towards dental health have an impact on the child’s overall dental health. This indicates a need for early intervention by dental services as a preventive measure for children with haemophilia.
There is little evidence on which to define the best treatment for the prevention of bleeding in people with congenital bleeding disorders undergoing surgery. As a result, treatment regimens are frequently based on local protocols developed by expert clinicians and information from uncontrolled observational studies. This article summarises the Cochrane Cystic Fibrosis and Genetic Disorders Group systematic review on ‘Treatment for preventing bleeding in people with haemophilia or other congenital bleeding disorders (CBDs) undergoing surgery’.
Services for people with haemophilia in Uganda are poor, resulting in a very low number of confirmed diagnoses. Over the past year, the Haemophilia Foundation of Uganda (HFU) has engaged in a concerted and coordinated media campaign focusing on radio, television and social media promoting the message that haemophilia results in painful shortened lives but is a treatable condition if appropriate services are in place. At the end of 2015, this awareness campaign culminated in a patient-screening day, along with a patient information camp. In advance of the patient testing day, a team from London’s Great Ormond Street Hospital ran an educational workshop for staff from Mulago Hospital. The team also attended the testing day, taking clinical histories from those attending, and ran workshop sessions at the patient meeting. The physician-training day attracted obstetricians, paediatricians, nurses, dentists, physiotherapists, midwives and pharmacists. Delegates understood that to develop a haemophilia service in Uganda required capacity building, and awareness raising, initially at a central level but gradually moving out to the regions. Physicians in Uganda have now embarked on a journey to providing haemophilia care. The next steps are to build political engagement and to continue raising awareness among the population.
Developing an inhibitor to von Willebrand factor (VWF) is extremely uncommon. Consequently, patients with von Willebrand disease (VWD) tend not to be routinely evaluated for inhibitors, leading to the possibility of delay in inhibitor diagnosis. We present such an occurrence to raise awareness, with a view to avoiding such delays. A 1-year-old male with no family history of bleeding disorders or parental consanguinity presented with a tongue bleed lasting three days. Investigations confirmed a diagnosis of Type 3 VWD. Over the next few months, the patient received seven exposures to Humate-P (a plasma derived FVIII containing von Willebrand factor concentrate), but developed an anaphylactic reaction necessitating adrenalin and Benadryl (diphenhydramine). The reaction quickly abated and did not recur with further exposure to Humate-P. In 2013, due to recurrent epistaxis and tonsillar bleeding, the patient was commenced on prophylaxis receiving Humate-P 50 RCo U/kg twice weekly. Despite this regimen, he continued to experience recurrent epistaxis, leading to escalation of prophylaxis to 3/week. In November 2014, he showed persistent tonsillar bleeding, despite having received two doses of Humate-P (each 40 RCo U/kg) in the previous 12 hours. Testing revealed reduced VWF:Ag, VWF:RCo and FVIII:C recoveries. Further testing revealed an anti-VWF antibody (2.6 BU) of unspecified Ig type. Since diagnosis of the inhibitor, he has received 100 RCo U/kg daily for prophylaxis and immune tolerance. He is now bleed-free; however, monthly inhibitor testing shows that his inhibitor persists. Given the limited experience and literature on inhibitors in VWD, the prognosis for such cases is unknown.