Comment: The JAK2 46/1 haplotype – an intriguing association of mutation?
John Reilly
pp 2-2
In 2005, several groups noted that the majority of polycythaemia vera (PV) cases and roughly half of essential thrombocythaemia (ET) and primary myelofibrosis (PMF) cases possess a somatic JAK2 V617F mutation – an abnormality now believed to be a critical driver behind the diseases’ pathogenesis. Why such patients should acquire the same mutation is at present unknown, although intriguing new data may provide possible clues.
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Peripheral blood stem cell donation: risks to donors
Khaled El-Ghariani
pp 3-5
Allogeneic haematopoietic stem cell transplantation provides curative therapy to disorders that are otherwise difficult to treat. Allogeneic transplantation relies on the availability of suitable human leucocyte antigen-matched donors; either family members or unrelated donors. Umbilical cord blood is also used as a source of allogeneic stem cells. Donor health and welfare is increasingly becoming the focus of many reports. This is probably due to the rising number of allogeneic transplantations and a growing awareness of the ethical, psychological and physical risks associated with stem cell donation.
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Healthcare provision to help young people cope with cancer
Suzanne Mooney, Mary Franches McMullin, Anne Lazenblatt and Berni Kelly
pp 6-8
Teenagers and young adults (TYAs) with cancer are recognised as a small, but in many ways uniquely vulnerable, group of cancer patients. Their capacity for coping is complicated by the experience of a dual crisis when the stressors of this important transitional life stage combine with the trauma of a cancer diagnosis and treatment regime, neither of which can be put on hold. TYA care provision across the UK is currently split between paediatric, adult and specialist units.
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Nurse-led initiatives in the management of myeloproliferative neoplasms
Joanne Tonkin
pp 9-11
The term myeloproliferative neoplasm (MPN) describes a group of conditions characterised by clonal proliferation of one or more haemopoietic components in the bone marrow, and often the liver and spleen. This group of disorders are closely related to each other, and in many patients a progression from one entity to another occurs during the course of the disease. Primary myelofibrosis (PMF), essential thrombocythaemia (ET) and polycythaemia vera (PV) are collectively known as the non-leukaemic MPNs. MPNs are classified as orphan diseases; the actual incidence is difficult to measure, because many people affected are asymptomatic until the occurrence of a major consequence.
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Living with MPDs: a day for patients
Alisia O'Sullivan
pp 12-13
MPD Voice was set up almost seven years ago by a small group of patients who wanted to support and encourage others who had limited understanding or knowledge of their myeloproliferative disorder (MPD). Over subsequent years it has grown and built its reputation as a reliable and essential resource to patients and their families. MPD Voice now has a website, a buddy system and patient forums, and has produced various patient leaflets, previously not readily available in the UK. On 19 November 2011, it ran its first ‘Living with MPDs’ day.
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Case study: Old dog, new tricks?
Heather Edwards and Jonathan Kell
pp 14-14
Essential thrombocythaemia (ET) is defined as a platelet count above 450 x 109/l following the exclusion of other causes. Patients are stratified into low, medium and high risk according to age, with patients over 60 years of age considered the highest risk. Treatment consists of venesection and hydroxycarbamide (HC) as first-line treatments. Anagrelide is an excellent second-line treatment, although caution should be exercised in patients with cardiovascular disease. Here, we discuss a challenging case of ET who developed intolerable side-effects with anagrelide.
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