As síndromes mielodisplásicas (SMD) são um grupo heterogêneo de doenças malignas das células-tronco hematopoéticas, classificadas segundo a Organização Mundial da Av. Brigadeiro Luiz Antonio, 2533 -Jd. Paulista 01401-000 -São Paulo-SP Tel.: (11) 3372 6611 -Fax: (11) 3284 2575 IntroduçãoSegundo a Organização Mundial da Saúde (OMS), a anemia refratária com sideroblastos em anel (ARSA) é uma síndrome caracterizada por anemia em que 15% ou mais dos precursores eritróides no aspirado de medula óssea, são sideroblastos em anel. O sideroblasto em anel é definido como um precursor eritróide em que a terça parte, ou mais, do nú-cleo, é rodeado por dez ou mais grânulos sideróticos ou células normoblásticas com cinco ou mais grânulos formando anel parcial ou completo ao redor do núcleo, demonstrados pela coloração de Perls.
antiplatelet autoantibodies when present help to diagnose idiopathic thrombocytopenic purpura. When absent, suggest other causes of thrombocytopenia.
5136 Introduction: Folic acid deficiency has been associated with obstetric complications such as preeclampsia, placental abruption and recurrent miscarriages (RM). Folic acid is a methyl group donating in various reactions. Low concentrations of 5,10-methylenetetrahydrofolate, the cofactor of enzyme thymidylate synthase, decrease the synthesis of thymidylate, which results in increased ratio deoxyuridylate monophosphate/deoxytimidylate monophosphate (dUMP/dTMP) and increased incorporation of deoxyuridylate triphosphate (dUTP) to DNA. The removal of dUTP by DNA-glycosylase can cause permanent damage to DNA, which may lead to apoptosis or increase the risk of developing cancer. Polymorphisms in genes of enzymes (MTHFR - methylene tetrahydrofolate reductase, MTR - methionine synthase and MTRR - methionine synthase reductase) and also in the gene of the reduced folate carrier (RFC1) were related to reduced folate and increased total homocysteine concentrations and have been associated as risk factors for RM. Material and Methods: 171 women with a history of three or more recurrent miscarriages and 95 healthy women with no history of abortion and having two or more normal babies were included. Weight and height of women were obtained and the body mass index (BMI) was calculated. The presence of antibodies (ANA and anti-DNA) was evaluated using immunofluorescence kits. The genotypes of the polymorphisms MTHFR c. 677C>T, MTR c. 2756A>G and RFC1 c.80G>A were obtained by PCR-RFLP, while genotyping for polymorphisms MTRR c. 66A>G and MTHFR c. 1298A>C was made by real time PCR. Multivariate logistic regression model (forward conditional) was used to obtain the odds ratio and its 95% confidence intervals of having MR (dependent variable). The independent variables were: quartiles of BMI, age range, positive ANA (titer of 1/40), positive anti-DNA (titre 1/10), genotypes for the MTHFR c. 677C>T, MTHFR c.1298A>C, MTR c. 2756A>G, MTRR c. 66A>G and RFC1 c. 80G>A. Results: No differences between the groups were observed for serum total homocysteine or allele frequencies for MTHFR c. 677C>T, MTHFR c. 1298A>C, MTR c. 2756A>G and RFC1 c.80G>A polymorphisms. In a conditional logistic regression analysis the risk of RM was significantly associated with BMI OR [95% CI] = 1.40 [1.02, 1.93] per quartile increase in BMI), positive anti-DNA OR [95% CI] = 7.24 [0.92, 57.25], positive ANA OR [95% CI] = 2.48 [1.21, 5.08], and AA genotype for MTRR c. 66A>G polymorphism (OR [95% CI] = 2.19 [1.16, 4.12]. Conclusion: The etiology of RM is multifactorial and it is associated with increasing of BMI, presence of autoantibodies and AA genotype for MTRR c. 66A>G polymorphism. Disclosures: No relevant conflicts of interest to declare.
LAZARO, RJ. Association between polymorphisms in the transcobalamin II (TCN2 c.776C> G and c TC2. 67A> G) and Methylenetetrahydrofolate reductase (MTHFR c.677C> T) and the risk of having recurrent miscarriages.
In our service of hematology 9,1 % of all consults are related to low platelet number finding in the CBC. Pseudothormbocytopenia is a rather unusual phenomenon, induced by agglutination of platelets by auto-antibodies acting on EDTA collected blood. Objective: Classify, diagnose and analyze low platelet counts as obtained by automatic blood counters. Methods: From January 1997 to May 2005; 16761 patients were attended in our service. Among them, 1174 cases (7,0%), 429 males and 745 females (1 to 75 years), were there because of low platelet counts alone. Platelet counts were done by Coulter T-890, with blood collected in EDTA K3 and sodium citrate. Counts were repeated after letting blood at 4o C for 24 hours; also Fonio technique and Neubauer camera counts were done. Normal value was defined as platelet count between 150,000 to 450,000. Bone marrow was obtained when necessary and stained by conventional techniques. Serological and biochemical tests were done in a Cobas Core (Roche) machine. Immuno-phenotyping was done in 115 cases, to identify anti-platelet-antibody (CD41 PE Immunotech and anti human IgG FTIC conjugate Sigma)-direct method, by flow citometry (Coulter Epics XL-MCL). Results: Among the 1158 cases, platelets counts between 120 000 to 150 000, were found in 15.8 %; laboratory error in 6,3 % and spurious low platelet counts in 1.3 %. In addition, the follow up for four years of those patients with “lower normal” platelet count (120 000 to 150 000) did not show any morbid process. Immunologycal idiopatic purpura (ITP) was diagnosed in 49,1 % of the cases, being as expected, more frequent in females, children and young adults. Hepatitis C as cause of low platelet counts was responsible for 6,9 % and HIV infection for 1.3 % of the cases Anti-platelet antibodies were present in 76.9 % of ITP cases and was not found in 88.3 % of normal platelet values. Conclusions: In an hematological reference service should be considered a lower range for normal platelet values (120 000 to 450 000). Additionally, low platelet counts as diagnosed by automated machines should be confirmed by slide exam and anti platelet antibody is useful for asserting ITP diagnosis and to rule out spurious thrombocytopenia or normal values.
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