There is limited information regarding the long-term outcomes of hematopoietic stem cell transplantation (HSCT) for Mucopolysaccharidosis II (MPS II). In this study, clinical, biochemical, and radiological findings were assessed in patients who underwent HSCT and/or enzyme replacement therapy (ERT). Demographic data for 146 HSCT patients were collected from 27 new cases and 119 published cases and were compared with 51 ERT and 15 untreated cases. Glycosaminoglycan (GAG) levels were analyzed by liquid chromatography tandem mass spectrometry in blood samples from HSCT, ERT, and untreated patients as well as age-matched controls. Long-term MRI findings were investigated in 13 treated patients (6 ERT and 7 HSCT). Mean age at HSCT was 5.5 years (2 to 21.4 years) in new cases and 5.5 years (10 months to 19.8 years) in published cases. None of the 27 new cases died as a direct result of the HSCT procedure. Graft-versus-host disease occurred in 8 (9%) out of 85 published cases, and 9 (8%) cases died due to transplant-associated complications. Most HSCT patients showed greater improvement in somatic features, joint movements and ADL compared to ERT patients. GAG levels in blood were significantly reduced by ERT and levels were even lower after HSCT. HSCT patients showed either improvement or no progression of abnormal findings in brain MRI while abnormal findings became more extensive after ERT. HSCT seems to be more effective than ERT for MPS II in a wide range of disease manifestations and could be considered as a treatment option for this condition.

BackgroundThe prevalence of smokers among blood donors and the effect of smoking on the quality of donated blood have not been extensively explored. In the present study, we determined the prevalence of smoker donors in a large blood bank in Southern Brazil and evaluated the quality of packed red blood cells (RBCs) from these donors through recommended quality control tests and measurement of carboxyhemoglobin (COHb) levels. We then assessed the influence of smoking habits and abstinence before donation on these parameters.Material and methodsAn observational study was conducted to determine the prevalence of smoking donors, while a prospective cohort study compared conventional hematological and serological parameters and COHb levels at 0, 15, and 30 days after donation in RBCs donated by smokers (N = 31) and nonsmokers (N = 31) and their association with smoking habits and abstinence before donation.ResultsOf 14,428 blood donations received in 1 year, 5.9% were provided by smokers. Storage over time slightly altered some quality parameters, such as hematocrit, hemoglobin, hemolysis, and COHb levels, in RBC packs. COHb levels were higher in RBC packs from smokers (8%) than from non-smokers (2%), and increased as a function of the number of cigarettes smoked daily and time elapsed since the last cigarette smoked before donation. Lower levels were found in RBC packs from donors who smoked fewer than 20 cigarettes per day or remained abstinent for more than 12h before giving blood.ConclusionAlthough cigarette smoke had no significant effect on blood quality parameters such as hematocrit, hemoglobin, or hemolysis, it quadrupled COHb levels in packed RBCs. Abstinence from smoking for more than 12h or smoking fewer than 20 cigarettes daily helped decrease COHb levels.ImplicationsGiven the increasing prevalence of tobacco use worldwide, we suggest blood banks recommend 12h of tobacco abstinence before donation and analyze COHb levels in donated blood as an approach to reduce risk for high-risk recipients.

Objective:To analyze the frequency of and odds for and against HIV infection based on ABO blood type in a large sample of blood donors.Background:Coevolution between pathogens and hosts may explain the ABO system of polymorphisms. HIV-infected cells add ABO(H) blood group antigens to the viral envelope. Naturally occurring antibodies against ABO(H) antigens that are present in normal human sera are able to neutralize ABO-expressing HIV in vitro. Blood donors are ideal for studying blood groups and HIV infection in vivo because all donors are routinely typed and tested.Methods:All blood donors who donated blood between 1994 and 2010 were tested for HIV (ELISA antibody tests and Western blot test or immunofluorescence testing) and were ABO typed (direct and reverse grouping tests). HIV infection based on the ABO blood group was analyzed using the chi-square test and game theory.Results:The total number of examined blood donors during this period was 271,410, of whom 389 were infected with HIV. B-group donors were more infected than non-B donors (p= 0.006).Conclusions:A more restricted antigen recognition capacity of anti-Galα1-3Gal in blood groups AB and B and a weaker antigen-binding capacity of anti-A antibodies may contribute to a higher frequency of HIV infection in blood group B.

Background and ObjectivesSmokers currently have no defined restrictions for blood donation. However, cigarette smoke contains toxic substances such as carbon monoxide (CO) and trace elements that can affect the packed red blood cells (PRBCs) quality and safety of transfusion. This study evaluated the effects of smoking on the concentration of essential and trace elements and on carboxyhemoglobin (COHb) levels in PRBCs from smoker donors. Materials and MethodsA matched case-control study was conducted to compare COHb levels, determined by the CO-oximetry method, and levels of trace (Cd, Pb, Cr, Ni, As and Hg) and essential (Ca, Mg, Cu, Fe, Mn, Mo, Se and Zn) elements evaluated by inductively coupled plasma mass spectrometry, in PRBCs from smoker (n = 36) and non-smoker (n = 36) donors at Hospital de Cl ınicas de Porto Alegre, Brazil.Results Mean COHb level was 14 times higher in the PRBCs obtained from smoker donors (5Á9 [4Á0-9Á1] vs. 0Á4 [0Á2-0Á8]%). Cadmium (1Á0 [1Á0-1Á8] lg/l vs. undetectable) and lead (27 [21-36] vs. 19 [14-26] lg/l) levels were significantly higher in the PRBCs from smokers. Moreover, except for molybdenum, levels of all essential elements were lower in smoker PRBCs. ConclusionThe PRBCs donated by smokers contain toxic elements that are probably not safe for transfusion in children. Our results might support changes in the current guidelines of blood banks to improve the transfusion safety through inclusion of inquiry about smoking in the clinical screening, labelling and reserve PRBCs from smoker donors for adults or less critical recipients.

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BackgroundDue to laboratory logistic issues, our center has traditionally scheduled peripheral blood stem cell harvests based on timing from the start of mobilization. This has proved to be useful in some cases, but also resulted in many fruitless harvests due to poor mobilization. In order to improve the efficiency of collections and compare the effectiveness of peripheral blood CD34+ cells as a predictor with data from other reports, this study analyzed the implementation of this routine.MethodsPeripheral blood and leukapheresis samples were quantified by flow cytometry and the association between these parameters was assessed.ResultsSixty-six consecutive leukapheresis samples were collected from 34 patients after the collection of peripheral blood samples for CD34+ quantification. A moderate positive correlation was observed between peripheral blood CD34+ cell count and total CD34+ cell count/kg (r = 0.596; p-value < 0.001). A multivariable regression model also confirmed this association and allowed the estimation that for every increase in five CD34+ cells/μL in the peripheral blood, a mean increase of 0.38 × 106 CD34+ cells/kg could be predicted. Demographic characteristics, baseline comorbidities and mobilization regimen did not influence final CD34+ cell count in this sample.ConclusionsAs observed in other centers, quantification of peripheral blood CD34+ progenitor cells is a strong predictor of effectiveness to guide stem cell harvesting. Due to the results of this study, a modification in the peripheral blood stem cell harvesting logistics was implemented at our center in order to incorporate this routine.

A trombocitose essencial (TE) faz parte do grupo de síndromes mieloproliferativas (SMP) cromossomo Philadelphia(Ph) negativas. Caracteriza-se pela hiperproliferação megacariocítica com consequente trombocitose periférica, favorecendo fenômenos trombo-hemorrágicos. Esta entidade estava esquecida até meados de 2005, quando as recentes publicações sobre as alterações moleculares na atividade da enzima tirosina quinase, JAK2, desencadeou um novo interesse sobre a patogenia, aspectos clínicos e terapêuticos da TE. A identificação das mutações de JAK2 e do gene MPL W515K, W515L e S505N impulsionou a nova proposta da Organização Mundial de Saúde (OMS) para reformular os critérios diagnósticos, reduzindo o número de plaquetas para 450x10 9 /L. O alicerce do tratamento são agentes redutores das contagens plaquetárias: hidroxiureia, anagrelide ou interferon associados à prevenção das complicações trombo-hemorrágicas. Não há um tratamento curativo para a TE, mas despontam perspectivas de que terapias alvo, bloqueadoras da mutação JAK2, possam incrementar o desfecho da doença. Inibidores de JAK2, específicos e inespecíficos, estão sendo estudados em fase I e II e parecem promissores num futuro próximo. Rev. Bras. Hematol. Hemoter. 2010;32(2):162-170. Palavras-chave: Transtornos mieloproliferativos; trombocitose; mutação; contagem de plaquetas.

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