High Frequency of Hb E-Saskatoon (HBB: c.67G > A) in Brazilians: A New Genetic Origin?

Hb E-Saskatoon [β22(B4)Glu→Lys, HBB: c.67G > A] is a rare, nonpathological β-globin variant that was first described in a Canadian woman of Scottish and Dutch ancestry and has since then been detected in several populations. The aim of the present study was to identify the origin of Hb E-Saskatoon in Brazil using β-globin haplotypes and genetic ancestry in carriers of this hemoglobin (Hb) variant.

Validation of reference genes for normalizing gene expression in real-time quantitative reverse transcription PCR in human thyroid cells in primary culture treated with progesterone and estradiol.

The use of appropriately chosen reference genes for normalizing gene expression in real-time quantitative reverse transcription polymerase chain reaction is an important step in the analysis of gene expression, compensating for several technical factors. As female sex hormones have been shown to influence growth and differentiation of thyroid follicular cells, the establishment of normalizer genes in human thyroid cells in primary culture, treated with progesterone, and estradiol, is important to evaluate their effect on gene expression in these cells, so candidate reference genes were studied. β-Actin, glyceraldehyde-3-phosphate dehydrogenase (GAPDH), β2-microglobulin (B2M), and TATA box binding protein (TBP) were evaluated in thyroid cells treated with estradiol, progesterone, and their inhibitors.

Prognosis of thyroid cancer related to pregnancy: a systematic review.

Differentiated thyroid cancer (DTC) is the second most common cancer in pregnancy. Its management is a challenge for both doctors and patients, and the best timing for surgery is unclear. A systematic review evaluating the prognosis of DTC in pregnant patients was conducted.

Role of estrogen in thyroid function and growth regulation.

Thyroid diseases are more prevalent in women, particularly between puberty and menopause. It is wellknown that estrogen (E) has indirect effects on the thyroid economy. Direct effects of this steroid hormone on thyroid cells have been described more recently; so, the aim of the present paper was to review the evidences of these effects on thyroid function and growth regulation, and its mechanisms.

Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia.

Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV < 80 fL) and a normal hemoglobin pattern (Hb A (2) < 3.

Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil.

Objective: To evaluate the correlation between glucose-6-phosphate-dehydrogenase (G6PD) deficiency and neonatal jaundice.

Methods: Prospective, observational case-control study was conducted on 490 newborns admitted to Hospital de Clínicas de Porto Alegre for phototherapy, who all experienced 35 or more weeks of gestation, from March to December 2007. Enzymatic screening of G6PD activity was performed, followed by PCR.

Prevalence of UGT1A1 gene polymorphism in patients with hemolytic anemia in southern Brazil.

The aim of the work was to determine the variation of UGT1A1 genotypes in patients with hemolytic anemia in the southern Brazil. Three hundred twenty-three patients with hemolytic anemia were genotyped for UGT1A1 along with 232 controls. Allelic and genotypic distribution did not differ among studied groups.

Neonatal screening for hemoglobinopathies: results of a public health system in South Brazil.

Aim: The aim of this study was to estimate the prevalence of hemoglobinopathies in South Brazil.

Methods: Samples of dried blood spots collected by heel prick in neonates were evaluated by isoeletric focusing and/or high-performance liquid chromatography techniques. All variants were characterized at the molecular level.

Polymorphic variants of UGT1A1 in neonatal jaundice in southern Brazil.

Alterations in the hepatic conjugation of bilirubin due to uridyl-diphosphate-glucuronosyltransferase 1A1 (UGT1A1) polymorphisms have been proposed as risk factors to neonatal jaundice. Herein, we estimated the frequency of genotypes of the promoter region of UGT1A1 gene in newborns and evaluated its association with severe hyperbilirubinemia. Prospective study of cases and controls including all newborns admitted for phototherapy at HCPA, Brazil, during 9 months; 490 babies were enrolled and PCR was performed.

Blood antioxidant parameters in sickle cell anemia patients in steady state.

Sickle cell anemia (SCA) is a hereditary disorder with higher potential for oxidative damage due to chronic redox imbalance in red cells. We measured antioxidant enzymes including catalase (CAT), glutathione peroxidase (GPx) and superoxide dismutase (SOD). We also determined oxidative damage of proteins in hemolysate of red blood cells (RBCs) and plasma (carbonyl assay).