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Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. We screened 59 unenriched archived bone marrow aspirate and peripheral blood samples from 51 patients with hairy cell leukemia using high resolution melting analysis and confirmatory Sanger sequencing. The BRAF V600E mutation was detected in 38 samples (from 36 patients). The BRAF V600E mutation was detected in all samples with disease involvement above the limit of sensitivity of the techniques used. Thirty-three of 34 samples from other hematologic malignancies were negative for BRAF mutations. A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma. Our data support the recent finding of a disease defining point mutation in hairy cell leukemia. Furthermore, high resolution melting with confirmatory Sanger sequencing are useful methods that can be employed in routine diagnostic laboratories to detect BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders.

Congenital dysfibrinogenemias are characterized by structural abnormalities in fibrinogen, which may lead to abnormal function. Fibrinogen has critical roles in coagulation, platelet aggregation and fibrinolysis; accordingly, abnormal fibrinogen function can result in a clinical phenotype, which varies from asymptomatic (around 55%) to bleeding (25%) and/or thrombosis (20%). We describe a novel γ326Cys→Phe mutation in the fibrinogen γ gene causing hypodysfibrinogenemia associated with life-threatening thrombosis in a family from Melbourne, Australia.

Sir,Increasing migration from Africa over the past decade has unearthed both common and less familiar haemoglobinopathies in Australian laboratories. This correspondence describes a family affected...

Exclusion of malaria traditionally requires three negative serial thick and thin blood films. However, many clinical laboratories now routinely perform rapid diagnostic tests (RDTs) in addition to blood films when malaria is suspected. We sought to determine whether serial testing is necessary in this setting. We examined 388 cases of malaria diagnosed during 1999–2010 at three laboratories in Melbourne, Australia. For each case, we ascertained whether the diagnosis was made on initial or follow-up testing. Nine cases (3.5%) were diagnosed after a negative initial blood film and RDT: 7 Plasmodium vivax, 1 P. ovale, and 1 P. falciparum. Of four case-patients with P. vivax in which clinical data were available, all had recent exposure to antimalarial medication. Our data suggest that among patients who have not received recent anti-malarial therapy, and when RDTs are performed and blood films are prepared, most malaria diagnoses are made by using the first set of tests.

Aim To review laboratory attitudes to MSBOS in anticipation of updating the ANZBST guidelines. Methods We undertook an online voluntary survey of senior transfusion scientists across Australia regarding current pre-trans-fusion practice with regards to MSBOS through a confidential online form. Results 72 laboratories participated: 49% serviced public hospitals, 11% private hospitals and 40% both. The majority (68%) had transfusion activity of >200 episodes of red-cell e-issue/cross-match monthly. E-issue was performed in 63%. Most serviced blood fridges within their institution (67%) and/or remote sites (61%). An MSBOS was used in only 36% with no significant difference in utilisation of an MSBOS based upon transfusion episodes, sector serviced or E-issue. Seventy-three percent used an MSBOS for all patients, 27% using it only for remote allocations and 14% for those with allo-antibodies. MSBOS were derived from the ANZSBT guideline (70%) and local data (52%). Sixty-three percent reported a high frequency of receiving clinical information on transfusion requests and 68% reported requested units complied with MSBOS. Thirty-one percent of laboratories felt a revised MSBOS would be useful. Conclusion A MSBOS is used in a minority of laboratories. Where used, good referrer compliance and significant interest in updated guidelines is reported.

Background/aim: Serious Transfusion Incident Reporting system (STIR) is the voluntary haemovigilance framework developed by Blood Matters program for Victoria, on behalf of the Department of Health and the Blood Service. It was developed in 2005 to capture serious transfusion incidents, including near misses. It provides a central system for reporting events related to administration and handling of fresh blood components and pre-transfusion samples. Method Health services submit initial notifications and the STIR office provides follow-up forms relevant to the event type (e.g., incorrect blood component transfused, IBCT) for completion. Information (de-identified) regarding the case is returned for data entry and review, including attribution of causality and severity, by an expert clinical group. STIR links with the Victorian Department of Health sentinel event program, where it is mandatory to report ABO incompatible transfusion events. Results Participation to date is 71 public and private hospitals and laboratories, across four jurisdictions (Victoria, Tasmania, Australian Capital Territory and Northern Territory). To date there have been 946 transfusion adverse events in 939 patients (both adults and children) notified. Conclusion STIR continues to evolve in its processes for transfusion data reporting while ensuring it provides ongoing feedback to those reporting and derives recommendations for better, safer transfusion practice.

Background Dabigatran is a direct thrombin inhibitor recently available through a physician familiarisation program (PFP) for prophylaxis of patients with non-valvular atrial fibrillation. The PFP was supported by pharmaceutical industry sponsored education. National and international reports of bleeding associated with this drug suggest inappropriate patient selection. Objectives To compare the characteristics of local patients prescribed dabigatran for the prevention of stroke with the RE-LY study population. Methods Retrospective analysis of patients exiting our oral anticoagulant service, transferred to dabigatran from warfarin, between June and November 2011 inclusive. Results 362 patients were known to be prescribed dabigatran. They were on average older than those of the RE-LY study (median age 78 versus 71 years), included those with significant renal impairment eGFR Two hundred and thirteen patients (58.8%) were transferred to dabigatran despite high quality anticoagulant management, defined as a time in therapeutic range (TTR) >65%; average TTR was 70% compared to 64% in the RE-LY study. Mild thrombocytopenia and concurrent antiplatelet drugs were noted in 12% and 15%, respectively. Conclusions Our study confirms prescription of dabigatran to a local population dissimilar to the RE-LY cohort.

Patient INR self-monitoring (PSM) for monitoring warfarin therapy is increasing in Australia. Accurate, easy-to-use point-of-care (POC) INR monitors are readily available in the community but no formal training program is available to support their use. A pharmacist-led program was developed and piloted to ensure patients interested in PSM receive comprehensive, targeted warfarin education and training in using the monitors. A quality assurance procedure was an integral component with patients having to demonstrate their ability to obtain accurate POC INR results by comparison with an accredited laboratory result. They had to complete two comparison tests before being permitted to self-monitor, and then perform ongoing periodic comparisons. Between September 2008 and July 2009, 28 patients in Tasmania and New South Wales completed this training and went on to self-monitor for a minimum of six months, completing a total of 108 comparison tests. POC INR results correlated significantly with laboratory results ( r = 0.86, p