Paroxysmal nocturnal hemoglobinuria is a chronic, multi-systemic, progressive and lifethreatening disease characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. Paroxysmal nocturnal hemoglobinuria results from the expansion of a clone of hematopoietic cells that due to an inactivating mutation of the X-linked gene PIG-A are deficient in glycosylphosphatidylinositol-linked proteins. Early diagnosis, using flow cytometry performed on peripheral blood, the gold standard test to confirm the diagnosis of paroxysmal nocturnal hemoglobinuria, is essential for improved patient management and prognosis. The traditional therapy for paroxysmal nocturnal hemoglobinuria includes blood transfusion, anti-thrombosis prophylaxis or allogeneic bone marrow transplantation. The treatment that has recently become available is the complement blockade by the anti-C5 monoclonal antibody eculizumab. In this consensus, we are aiming to review the diagnosis and treatment of the paroxysmal nocturnal hemoglobinuria patients, as well as the early recognition of its systemic complications. These procedures express the opinions of experts and have been based on the best available evidence and international guidelines, with the purpose of increasing benefits and reducing harm to patients.

OBJECTIVE: Deferral of blood donors due to low hematocrit and iron depletion is commonly reported in blood banks worldwide. This study evaluated the risk factors for low hematocrit and iron depletion among prospective blood donors in a large Brazilian blood center.METHOD: A case-control study of 400 deferred donors due to low hematocrit and 456 eligible whole blood donors was conducted between 2009 and 2011. Participants were interviewed about selected risk factors for anemia, and additional laboratory tests, including serum ferritin, were performed. Bivariate and multivariate analyses were performed to assess the association between predictors and deferral due to low hematocrit in the studied population and iron depletion in women.RESULTS: Donors taking aspirins or iron supplementation, those who reported stomachache, black tarry stools or hematochezia, and women having more than one menstrual period/month were more likely to be deferred. Risk factors for iron depletion were repeat donation and being deferred at the hematocrit screening. Smoking and lack of menstruation were protective against iron depletion.CONCLUSION: This study found some unusual risk factors related to gastrointestinal losses that were associated with deferral of donors due to low hematocrit. Knowledge of the risk factors can help blood banks design algorithms to improve donor notification and referral.

BACKGROUND: Sickle cell disease is the most common monogenic hereditary disease in Brazil. Although strokes are one of the main causes of morbidity and mortality in these patients, the use of transcranial Doppler to identify children at risk is not universally used. OBJECTIVE: To develop Brazilian guidelines for the use of transcranial Doppler in sickle cell disease children and adolescents, so that related health policies can be expanded, and thus contribute to reduce morbidity and mortality. METHODS: The guidelines were formulated in a consensus meeting of experts in transcranial Doppler and sickle cell disease. The issues discussed were previously formulated and scientific articles in databases (MEDLINE, SciELO and Cochrane) were carefully analyzed. The consensus for each question was obtained by a vote of experts on the specific theme. RESULTS: Recommendations were made, including indications for the use of transcranial Doppler according to the sickle cell disease genotype and patients age; the necessary conditions to perform the exam and its periodicity depending on exam results; the criteria for the indication of blood transfusions and iron chelation therapy; the indication of hydroxyurea; and the therapeutic approach in cases of conditional transcranial Doppler. CONCLUSION: The Brazilian guidelines on the use of transcranial doppler in sickle cell disease patients may reduce the risk of strokes, and thus reduce the morbidity and mortality and improve the quality of life of sickle cell disease patients.

OBJETIVO: avaliar os resultados maternos e perinatais de gestações complicadas por doenças falciformes, comparando-as com portadoras de traço falciforme. MÉTODOS: este estudo é uma coorte retrospectiva, abrangendo o período de Março de 2001 a Abril de 2008, tendo sido incluídas todas as gestantes portadoras de doença falciforme (n=42) acompanhadas em hospital universitário da região sudeste do Brasil. Os resultados maternos e perinatais foram comparados com os de gestantes portadoras de traço falciforme (n=56) acompanhadas no mesmo serviço. RESULTADOS:a hemoglobinopatia SS foi diagnosticada em 42 gestantes (82,4%) e a SC em nove (17,6%). A idade materna foi significativamente menor no grupo com doença falciforme (média=26,0; SD=4,3) quando comparadas às com traço falciforme (média=28,7, DP=7,1; p=0,018). As seguintes complicações maternas foram significativamente mais frequentes no grupo com doença falciforme em comparação ao grupo com traço falciforme: infecção do trato urinário (25,5 versus 8,9%; p=0,04), pneumonia (23,5 versus 1,8%; p=0,002), hipertensão pulmonar (15,7 versus 0%; p=0,002), e transfusão no parto/pós-parto (33,3 versus 5,4%; p=0,001). Resultados perinatais adversos foram significativamente mais frequentes no grupo com doença falciforme quando comparados ao grupo com traço falciforme: prematuridade (49 versus 25%; p=0,01), média da idade gestacional no parto (35,2 versus 37,9 semanas; p<0,001), diagnóstico de sofrimento fetal (56,9 versus 28,6%; p=0,006), peso do recém-nascido <2.500g (62,7 versus 17,9%; p<0,001), média do peso do recém-nascido (2.183 versus 2.923 g; p<0,001) e recém-nascidos pequenos para a idade gestacional (29,4 versus 10,7%; p=0,02). Duas mortes maternas (3,9%) ocorreram no grupo com doença falciforme. CONCLUSÕES: gestantes portadoras de doença falciforme apresentam maior risco para morbidade materna e resultados perinatais adversos quando comparadas às portadoras de traço falciforme.

PURPOSE: the aim of this study was to describe perinatal and maternal outcomes of pregnancies complicated by sickle cell disease (SCD), comparing to pregnancies of women with sickle cell trait (SCT). METHODS: this was a retrospective cohort study, covering the period from March 2001 to April 2008, which included all pregnant women with SCD (n=42) followed up at a university hospital in the Southeast region of Brazil. The maternal and perinatal outcomes were compared to those of pregnant women with SCT (n=56) who were followed up at the same service. RESULTS:SCD-SS was diagnosed in 42 (82.4%) pregnant women and SC in 9 (17.6%). Mean (±SD) maternal age was significantly lower in the SCD group (26.0 years) compared to SCT women (28.7±7.1 years; p=0.018). The following maternal complications were more common among women with SCD in comparison to SCT: urinary tract infection (25.5 versus 8.9%; p=0.04), pneumonia (23.5 versus 1.8%; p=0.002), pulmonary hypertension (15.7 versus 0%; p=0.002), and blood transfusion during delivery or postpartum (33.3 versus 5.4%; p=0.001). Adverse perinatal outcome was more frequent in the SCD group compared to the SCT group: prematurity (49 versus 25%, p=0.01); mean gestational age at delivery (35.2 versus 37.9 weeks, p<0.001); fetal distress (56.9 versus 28.6%, p=0.006); birth weight <2,500 g (62.7 versus 17.9%, p<0.001); mean birth weight (2,183 versus 2,923 g, p<0.001), and small for gestational age infants (29.4 versus 10.7%, p=0.029). Two maternal deaths (3.9%) occurred in the group with SCD. CONCLUSION: Pregnant women with SCD are at greater risk for maternal morbidity and for adverse perinatal outcomes than women with SCT.