Prophylaxis is the new standard of care in patients with haemophilia.

Randomised controlled clinical trial evidence on prophylaxis as optimal care for patients with haemophilia was generated more than a decade ago. However, this knowledge has not translated into clinical practice in South Africa (SA) owing to many barriers to prophylaxis. These include the high treatment burden imposed by prophylaxis (frequent injections two to four times a week), the need for intravenous access to administer replacement clotting factor therapies, and the higher volume of clotting factor required compared with episodic treatment. The recently introduced non-factor therapies in haemophilia care have addressed many of these barriers. For example, emicizumab, which is currently the only globally approved non-factor therapy, can be administered subcutaneously less frequently (weekly, fortnightly or every 4 weeks) and has led to global adoption of prophylaxis as the standard of care in haemophilia by the bleeding disorders community. Haemophilia A is the most prevalent clotting factor deficiency in SA, with >2 000 people diagnosed to date. However, only a few of these patients are currently on prophylaxis. In this 'In Practice' article, we review the rationale for prophylaxis, outline its goals and benefits, and provide evidence-based guidance on which haemophilia patients should be prioritised for emicizumab prophylaxis. This consensus guidance facilitates the adoption of prophylaxis as a national policy and the new standard of care in haemophilia in SA.

Recommendations for the management of sickle cell disease in South Africa.

The spectrum of sickle cell disease (SCD) encompasses a heterogeneous group of disorders that include: (I) homozygous SCD (HbSS), also referred to as sickle cell anaemia; (ii) heterozygous SCD (HbAS), also referred to as sickle cell trait; and (iii) compound heterozygous states such as HbSC disease, HbSß thalassaemia, etc. Homozygous or compound heterozygous SCD patients manifest with clinical disease of varying severity that is influenced by biological and environmental factors, whereas subject with sickle cell trait are largely asymptomatic. SCD is characterized by vaso-occlusive episodes that result in tissue ischaemia and pain in the affected region. Repeated infarctive episodes cause organ damage and may eventually lead to organ failure. For effective management, regular follow-up with support from a multidisciplinary healthcare team is necessary. The chronic nature of the disease, the steady increase in patient numbers, and relapsing acute episodes have cost implications that are likely to impact on provincial and national health budgets. Limited resources mandate local management protocols for the purposes of consistency and standardisation, which could also facilitate sharing of resources between centres for maximal utility. These recommendations have been developed for the South African setting, and it is intended to update them regularly to meet new demands and challenges.

Laparoscopic splenectomy for immune thrombocytopenic purpura.

BACKGROUND: Laparoscopic splenectomy has become the preferred method of splenectomy for refractory immune thrombocytopenic purpura (ITP). We present our experience with the introduction of laparoscopic splenectomy for ITP. METHODS: Over a 2-year period, retrospective and prospective data were collected on all patients undergoing laparoscopic splenectomy for ITP at our institution. We analysed demographic data, peri-operative courses, platelet count responses and complications. RESULTS: Twenty laparoscopic splenectomies were performed. There were 2 conversions to an open procedure. The average operating time was 100 minutes (range 30 - 170 minutes), and mean blood loss was 106 ml (range 50 - 200 ml). There were no deaths or major complications. The mean follow-up period was 7 months. Ninety-five per cent of patients had a complete or partial response to splenectomy. CONCLUSION: Laparoscopic splenectomy can be introduced safely with an acceptable conversion rate, and is an effective treatment for ITP on short-term follow-up.

Impact of the HIV epidemic and Anti-Retroviral Treatment policy on lymphoma incidence and subtypes seen in the Western Cape of South Africa, 2002-2009: preliminary findings of the Tygerberg Lymphoma Study Group.

The Tygerberg Lymphoma Study Group was constituted in 2007 to quantify the impact of HIV on the pattern and burden of lymphoma cases in the Western Cape of South Africa which currently has an HIV prevalence of 15%. South Africa has had an Anti-Retroviral Treatment (ART) policy and a roll-out plan since 2004 attaining 31% effective coverage in 2009. This study is designed to qualify and establish the impact of HIV epidemic and the ARV roll-out treatment program on the incidence of HIV Related Lymphoma (HRL). Early data document that despite the ART roll out, cases of HRL are increasing in this geographical location, now accounting for 37% of all lymphomas seen in 2009 which is an increase from 5% in 2002. This is in contrast to trends seen in developed environments following the introduction of ART. Also noted are the emergence of subtypes not previously seen in this location such as Burkitt and plasmablastic lymphomas. Burkitt lymphoma is now the commonest HRL seen in this population followed by diffuse large B-cell lymphoma subtypes. The reasons for this observed increase in HRL are not ascribable to improved diagnostic capacity as the tertiary institute in which these diagnoses are made has had significant expertise in this regard for over a decade. We ascribe this paradoxical finding to an ART treatment environment that is ineffective for a diversity of reasons, paramount of which are poor coverage, late commencement of ART and incomplete viral suppression.

Guidelines for the treatment of myelodysplastic syndromes (MDS) in South Africa.

INTRODUCTION: Myelodysplastic syndromes (MDS) encompass a heterogeneous group of clonal haematopoietic disorders characterised by chronic and progressive cytopenias resulting from ineffective haematopoiesis. Treatment is complicated by differences in disease mechanisms in different subgroups, variable clinical phenotypes and risk of progression to acute myeloid leukaemia. RATIONALE: Changes in disease classification, prognostic scoring systems, the availability of novel treatment options and the absence of South African guidelines for the diagnosis and management of these complex disorders underpinned the need for the development of these recommendations. METHODS: These recommendations are based on the opinion of a number of experts in the field from the laboratory as well as clinical settings and came from both the private and institutional academic environments. The most recent literature as well as available guidelines from other countries were discussed and debated at a number of different meetings held over a 2-year period. RESULTS: A comprehensive set of recommendations was developed focusing on risk stratification, supportive management and specific treatment. Novel agents and their indications are discussed and recommendations are made based on best available evidence and taking into account the availability of treatments in South Africa. CONCLUSION: Correct diagnosis, risk stratification and appropriate therapeutic choices are the cornerstones of success in the management of patients with myelodysplastic syndromes.

Impact of HIV-1 status on the radiological presentation and clinical outcome of children with WHO defined community-acquired severe pneumonia.

AIMS: We compared the radiological features and outcome of WHO defined severe pneumonia among HIV infected and exposed uninfected children randomised to receive penicillin or oral amoxicillin in Durban, South Africa. METHODS: Of 425 children aged between 3 and 59 months with WHO defined severe pneumonia, 366 had anonymous HIV testing performed. Outcome was assessed by failure to improve at 48 h after enrolment or deterioration within 14 days. Chest radiographs were evaluated according to WHO defined radiological criteria for pneumonia and internationally standardised radiological criteria. Findings were stratified for HIV status. RESULTS: 82 (22.4%) children were HIV infected, 40 (10.9%) were HIV exposed and 244 (66.7%) were HIV uninfected. The day 14 outcome in children <12 months of age was significantly worse in HIV-1 infected than HIV uninfected children (OR 2.8 (95% CI 1.35 to 3.5), p = 0.002), while HIV-1 infected and uninfected children aged > or =12 months had equivalent outcomes. Parental penicillin and oral amoxicillin had equivalent response rates in all HIV groups. According to the WHO radiological classification, children who failed WHO standard antimicrobial treatment had significantly higher "other consolidates/infiltrates" than "endpoints for consolidation" in the HIV infected group (OR 5.45 (95% CI 1.58 to 21.38), p<0.002), while the reverse was true for HIV exposed uninfected children (OR 4.13 (95% CI 0.88 to 20.57), p<0.036). CONCLUSIONS: The WHO standard treatment guideline for severe pneumonia is inadequate for HIV-1 infected infants. The increased prevalence of "other consolidates/infiltrates" among HIV-1 infected children who failed standard treatment supports the addition of co-trimoxazole to WHO standard treatment.

Stereotyped movement disorder of rocking.

Despite the relatively common occurrence of rocking behavior in children, the literature contains little information on the diagnosis, management, and treatment of this condition. The authors report a case of body rocking in an 8-year-old girl, for which they discuss possible etiological factors and therapeutic strategy.