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Vicari P.,Disciplina de Hematologia e Hemoterapia | Adegoke S.A.,Disciplina de Hematologia e Hemoterapia | Mazzotti D.R.,University of Sao Paulo | Nogutti M.A.E.,Disciplina de Hematologia e Hemoterapia | Figueiredo M.S.,Disciplina de Hematologia e Hemoterapia
Blood Cells, Molecules, and Diseases | Year: 2015

Sickle cell anemia (SCA), a disorder characterized by both acute and chronic inflammation, exhibits substantial phenotypic variability. Interleukin-1 beta (IL-1β) and IL-6 are important in acute and chronic diseases, and their single nucleotide polymorphisms (SNPs) have been considered as predictors of prognosis in several inflammatory conditions. This study aims at exploring possible association of IL-1β and IL-6 SNPs as potential genetic modifiers and or predictors of SCA clinical and laboratory phenotypes. This cross-sectional study involved 107 SCA patients and 110 age, sex and ethnicity-matched healthy individuals. The SNPs were identified by PCR-RFLP for IL-1β (-. 511C. >. T and +. 3954C. >. T) and IL-6 (-. 597G. >. A and -. 174G. >. C) genes. Associations between these SNPs and the clinical and laboratory profiles of patients with SCA were then determined. Allelic and genotypic frequencies of IL-1β and IL-6 SNPs between patients with SCA and controls were similar and followed HWE. IL-1β +. 3954C. >. T SNP was associated with increased risk of osteonecrosis, elevated pulmonary arterial pressure and lower absolute reticulocyte count, while IL-6 -. 597G. >. A was associated with higher likelihood of retinopathy and leg ulcer. These data indicate that IL-1β and IL-6 gene SNPs are associated with SCA complications among Brazilian patients and may act as genetic predictors of SCA clinical heterogeneity. © 2014 Elsevier Inc..

Martin F.O.,University of Sao Paulo | de Menezes S.S.,Disciplina de Hematologia e Hemoterapia | Chiba A.K.,University of Sao Paulo | Langhi D.M.,Disciplina de Hematologia e Hemoterapia | And 3 more authors.
Transfusion and Apheresis Science | Year: 2013

Background: The D-negative phenotype is the result of the total RHD gene deletion in almost all Caucasians, but it accounts for only about 20% in Africans and 70% in Asians. In Africans the RHDΨ that is one of the most important causes of the D-negative phenotype. We investigated the RHD polymorphisms in D-negative phenotype mixed Brazilians who have anti-D alloantibody. Study design and methods: Blood samples from 130 individuals previously typed as D-negative were phenotyped again using: (a) two tube reagents (Anti-D blend reagent, Cellular line TH-28, MS-26; and Anti-D polyclonal); (b) one gel test ID-Card for Rh subgroups including Cw and K antigen; and (c) ABO/Rh (Anti-D blend reagent, Cellular line 175-2, LDM3). The method used for RHD screening detected the presence of RHD exon 10 and intron 4. Sequence analysis was performed on PCR products amplified from genomic DNA for all 10 exons RHD gene. Results: We found that 118/130 (90.8%) of D-negative tested individuals had total RHD gene deletion, while 12/130 (9.2%) showed RHD gene polymorphisms. The RHDΨ was found in 10 (7.7%) individuals, one sample (0.77%) hybrid RHD-. CE-. Ds /. RHDΨ, and another (0.77%) weak D type 4.2. Conclusions: The results showed that the RHD gene was present in 9.2% of racially mixed Brazilians who produced usually clinically significant anti-D alloantibodies. Therefore, the data showed that careful attention is necessary for clinicians in applying RhD genotyping to transfusion medicine in populations with high rate of racial admixture. © 2012 Elsevier Ltd.

Linardi C.C.G.,Disciplina de Hematologia e Hemoterapia | Linardi C.C.G.,University of Sao Paulo | Martinez G.,Disciplina de Hematologia e Hemoterapia | Martinez G.,University of Sao Paulo | And 13 more authors.
Brazilian Journal of Medical and Biological Research | Year: 2012

Eighty-six newly diagnosed multiple myeloma (MM) patients from a public hospital of São Paulo (Brazil) were evaluated by cIg- FISH for the presence of del(13)(q14), t(4;14)(p16.3;q32) and del(17)(p13). These abnormalities were observed in 46.5, 9.3, and 7.0% of the patients, respectively. In order to identify the possible role of del(13)(q14) in the physiopathology of MM, we investigated the association between this abnormality and the proliferative and apoptotic indexes of plasma cells. When cases demonstrating t(4;14)(p16.3;q32) and del(17)(p13) were excluded from the analysis, we observed a trend towards a positive correlation between the proportion of cells carrying del(13)(q14) and plasma cell proliferation, determined by Ki-67 expression (r = 0.23, P = 0.06). On the other hand, no correlation between the proportion of cells carrying del(13)(q14) and apoptosis, determined by annexin-V staining, was detected (r = 0.05, P = 0.69). In general, patients carrying del(13)(q14) did not have lower survival than patients without del(13)(q14) (P = 0.15), but patients with more than 80% of cells carrying del(13)(q14) showed a lower overall survival (P = 0.033). These results suggest that, when del(13)(q14) is observed in a high proportion of malignant cells, it may have a role in determining MM prognosis. Another finding was a statistically significant lower overall survival of patients with t(4;14)(p16.3;q32) (P = 0.026). In the present study, almost half the patients with t(4;14)(p16.3;q32) died just after diagnosis, before starting treatment. This fact suggests that, in São Paulo, there may be even more patients with this chromosomal abnormality, but they probably die before being diagnosed due to unfavorable socioeconomic conditions. This could explain the low prevalence of this chromosomal abnormality observed in the present study.

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