Myeloproliferative Neoplasms in Children and Adolescents and Thrombosis at Unusual Sites: The Role of Driver Mutations.

Myeloproliferative neoplasms (MPNs) in childhood and adolescence are rare and seldom complicated by thrombosis. We describe 3 cases of thrombosis at unusual sites in young patients with MPNs. In the pediatric MPN population, unlike in adult MPNs, a clonal mutation is identifiable in only a minority of cases (22% to 26%). All 3 of these individuals had JAK2 mutations driving the disease process. A literature search identified 19 cases of MPN-associated thrombosis in children. Seventeen of the 19 children (89.5%) had a driver mutation. These cases suggest that identifiable driver mutations may confer an increased thrombotic risk in children with MPNs.

A no-prophylaxis platelet-transfusion strategy for hematologic cancers.

BACKGROUND: The effectiveness of platelet transfusions to prevent bleeding in patients with hematologic cancers remains unclear. This trial assessed whether a policy of not giving prophylactic platelet transfusions was as effective and safe as a policy of providing prophylaxis. METHODS: We conducted this randomized, open-label, noninferiority trial at 14 centers in the United Kingdom and Australia. Patients were randomly assigned to receive, or not to receive, prophylactic platelet transfusions when morning platelet counts were less than 10×10(9) per liter. Eligible patients were persons 16 years of age or older who were receiving chemotherapy or undergoing stem-cell transplantation and who had or were expected to have thrombocytopenia. The primary end point was bleeding of World Health Organization (WHO) grade 2, 3, or 4 up to 30 days after randomization. RESULTS: A total of 600 patients (301 in the no-prophylaxis group and 299 in the prophylaxis group) underwent randomization between 2006 and 2011. Bleeding of WHO grade 2, 3, or 4 occurred in 151 of 300 patients (50%) in the no-prophylaxis group, as compared with 128 of 298 (43%) in the prophylaxis group (adjusted difference in proportions, 8.4 percentage points; 90% confidence interval, 1.7 to 15.2; P=0.06 for noninferiority). Patients in the no-prophylaxis group had more days with bleeding and a shorter time to the first bleeding episode than did patients in the prophylaxis group. Platelet use was markedly reduced in the no-prophylaxis group. A prespecified subgroup analysis identified similar rates of bleeding in the two study groups among patients undergoing autologous stem-cell transplantation. CONCLUSIONS: The results of our study support the need for the continued use of prophylaxis with platelet transfusion and show the benefit of such prophylaxis for reducing bleeding, as compared with no prophylaxis. A significant number of patients had bleeding despite prophylaxis. (Funded by the National Health Service Blood and Transplant Research and Development Committee and the Australian Red Cross Blood Service; TOPPS Controlled-Trials.com number, ISRCTN08758735.).

Ten-year pattern of red blood cell use in the North of England.

BACKGROUND: An understanding of current and changing patterns of red blood cell (RBC) use will help predict future demands and aid future planning for transfusion services. It can also highlight areas where efforts to optimize RBC use are most likely to be productive. STUDY DESIGN AND METHODS: Surveys were conducted in two 14-day periods of all RBC transfusions in a geographic region of England supplied by a single blood center. Data collection was prospective and used preprinted paper forms. Results were compared with two previous studies covering a period of 10 years. RESULTS: The clinical fate of 8025 units of RBCs was recorded consistent with data on more than 99% of units issued and transfused during the survey period. The overall RBC transfusion rate has decreased from 45.5 to 36 units per 100,000 population from 1999 and 2009. Twenty-nine percent were used for surgical indications indicating a further decrease in surgical use compared to previous surveys. This decrease was limited solely to recipients of 50 to 80 years of age. Use for medical and obstetric/gynecologic indications has not changed significantly over 10 years. CONCLUSION: Further decreases in surgical RBC use may be achievable but the aging population is likely to demand more blood for nonsurgical indications and efforts should be directed to optimizing use in these recipients. Comparative data on transfusion rates between regions or countries may be a useful tool for improving blood use.

Early diagnosis and treatment of cobalamin deficiency of infancy owing to occult maternal pernicious anemia.

SUMMARY: We report case of an infant who presented with failure to thrive and developmental delay at 4 months of age. He was diagnosed to have vitamin B12 deficiency and antibodies to intrinsic factor secondary to undiagnosed maternal pernicious anemia. The child was treated with hydroxocobalamin and now at 2 years of age, he is developing and growing within normal range. We review the literature on this rare cause of cobalamin deficiency in infants. We highlight the factors determining the outcome and situations where raised index of suspicion could help in recognizing this preventable cause of developmental delay and learning difficulties.