SABIIA - Sistema Aberto e Integrado de Informação em Agricultura (Sabiia)

Lindenau,Juliana D.; Wagner,Sandrine C.; Castro,Simone M. de; Hutz,Mara H..

Abstract Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of βS haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the...

Mutagenicity of hydroxyurea in lymphocytes from patients with sickle cell disease

Palavras-chave: ΒS globin haplotypes; Sickle cell disease; Hemoglobin S; Migration.

Ano: 2016

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400515

Khayat,André Salim; Guimarães,Adriana Costa; Cardoso,Plínio Cerqueira; Lima,Patrícia Danielle Lima de; Bahia,Marcelo de Oliveira; Antunes,Lusânia M. Greggi; Burbano,Rommel Rodríguez.

Hydroxyurea is commonly used in the treatment of myeloproliferative diseases and in patients with sickle cell disease (SCD). The use of this antineoplastic agent in patients with SCD is justified because of the drug's ability to increase fetal hemoglobin levels, thereby decreasing the severity of SCD. However, high doses or prolonged treatment with hydroxyurea can be cytotoxic or genotoxic for these patients, with an increased risk of developing acute leukemia. This danger can be avoided by monitoring the lymphocytes of patients treated with hydroxyurea. Cytogenetic tests are important endpoints for monitoring the physiological effects of physical and chemical agents, including drugs. In this work, we assessed the genotoxicity of hydroxyurea in short-term...

Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura

Palavras-chave: Hydroxyurea; Sickle cell disease; Mutagenesis.

Ano: 2004

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000100019

Cardoso,Greice Lemos; Takanashi,Silvania Yukiko Lins; Guerreiro,João Farias.

The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%) was significantly lower than that encountered in other Afro-derived communities in the region. Concomitantly, the absence of the HBB*C allele has been reported for most of the Afro-Amazonian communities thus far studied. As remnant populations of quilombos are generally small, the heterogeneous distribution of HBB*S and HBB*C alleles among them is probably due to genetic drift and/or founder effect. The...

Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

Palavras-chave: Sickle cell disease; Thalassemias; Afro-Amazonian.

Ano: 2012

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400002

Shimauti,Eliana LitsukoTomimatsu; Silva,Danilo Grunig Humberto; Souza,Eniuce Menezes de; Almeida,Eduardo Alves de; Leal,Francismar Prestes; Bonini-Domingos,Claudia Regina.

The aim of this study was to determine the frequency of beta S-globin gene (βS globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α3.7kb thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of βS globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The βSglobin haplotypes and −α3.7kb thalassemia were identified using polymerase chain reaction.Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the...

Chronic ulcers and myasis as ports of entry for Clostridium tetani

Palavras-chave: Antioxidants; Hemoglobinopathies; Melatonin; Sickle cell disease; Thalassemia.

Ano: 2015

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000300316

BJID

Greco,Jiuseppe Benitivoglio; Sacramento,Edilson; Tavares-Neto,José.

Evaluating tetanus immune status is not yet the usual clinical practice regarding patients with chronic ulcers or myasis. However, of 858 tetanus patients at Hospital Couto Maia (Salvador, Bahia, Brazil) aged 1 year or above, 2 had pressure ulcers and 17 had chronic ulceration of the lower limbs where these skin lesions were the ports of entry for Clostridium tetani. In these 19 cases, the following predisposing factors were described: venous insufficiency (n=6), sickle cell anemia (n=2), Hansen's disease (n=1), malnutrition (n=1), diabetes mellitus (n=1), trauma (n=1) and unknown factors (n=7). In 6 other cases, in addition to the Hansen's disease patient, the port of entry for tetanus was the site of extraction of Tunga penetrans larvae. In these 25...

Higher values of triglycerides:HDL-cholesterol ratio hallmark disease severity in children and adolescents with sickle cell anemia

Palavras-chave: Tetanus; Chronic leg ulcer; Venous leg ulcer; Sickle cell disease; Hansen's disease; Tunga penetrans; Clostridium tetani.

Ano: 2001

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702001000600005

Teixeira,R.S.; Arriaga,M.B.; Terse-Ramos,R.; Ferreira,T.A.; Machado,V.R.; Rissatto-Lago,M.R.; Silveira-Mattos,P.S.; Boa-Sorte,N.; Ladeia,A.M.T.; Andrade,B.B..

Dyslipidemia has been described in sickle cell anemia (SCA) but its association with increased disease severity is unknown. Here, we examined 55 children and adolescents with SCA as well as 41 healthy controls to test the association between the lipid profiles in peripheral blood and markers of hemolysis, inflammation, endothelial function, and SCA-related clinical outcomes. SCA patients exhibited lower levels of total cholesterol (P<0.001), low-density lipoprotein cholesterol (LDL-c) (P<0.001), and high-density lipoprotein cholesterol (HDL-c) (P<0.001), while displaying higher triglyceride (TG) levels and TG/HDL-c ratio values (P<0.001). TG/HDL-c values were positively correlated with lactate dehydrogenase (P=0.047), leukocyte count (P=0.006),...

Risk factors for alloimmunization by patients with sickle cell disease

Palavras-chave: Sickle cell disease; Lipoproteins; Cholesterol; Triglycerides; Hydroxyurea; Endothelial function.

Ano: 2019

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019001000612

Murao,M.; Viana,M.B..

Blood transfusion in patients with sickle cell disease (SCD) is limited by the development of alloantibodies to erythrocytes. In the present study, the frequency and risk factors for alloimmunization were determined. Transfusion records and medical charts of 828 SCD patients who had been transfused and followed at the Belo Horizonte Blood Center, Belo Horizonte, MG, Brazil, were retrospectively reviewed. Alloimmunization frequency was 9.9% (95% CI: 7.9 to 11.9%) and 125 alloantibodies were detected, 79% of which belonged to the Rhesus and Kell systems. Female patients developed alloimmunization more frequently (P = 0.03). The median age of the alloimmunized group was 23.3 years, compared to 14.6 years for the non-alloimmunized group (P < 0.0001)....

Evaluation of renal function in sickle cell disease patients in Brazil

Palavras-chave: Sickle cell disease; Red cell alloimmunization; Blood cell transfusion; Transfusion reactions.

Ano: 2005

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000500004

Minimal doses of hydroxyurea for sickle cell disease

Silva Junior,G.B.; Libório,A.B.; Vieira,A.P.F.; Bem,A.X. Couto; Lopes Filho,A.S.; Figueiredo Filho,A.C.; Guedes,A.L.M.O.; Souza,J.H.; Costa,C.M.B.E.; Costa,R.; Daher,E.F..

The objective of this study was to investigate renal function in a cohort of 98 patients with sickle cell disease (SCD) followed up at a tertiary hospital in Brazil. Clinical and laboratory characteristics at the time of the most recent medical examination were analyzed. Renal function was evaluated by the estimation of glomerular filtration rate (GFR) by the criteria of the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI). We compared patients with normal GFR to patients with decreased GFR (<60 mL·min-1·(1.73 m²)-1) and hyperfiltration (>120 mL·min-1·(1.73 m²)-1). Comparison between patients according to the use of hydroxyurea and comparison of clinical and laboratory parameters according to GFR were also carried out. Average patient...

Tipo: Info:eu-repo/semantics/other

Palavras-chave: Sickle cell disease; Kidney disease; Glomerular filtration rate; Creatinine; Chronic kidney disease; Hydroxyurea.

Ano: 2012

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000700013

Lima,C.S.P.; Arruda,V.R.; Costa,F.F.; Saad,S.T.O..

The use of hydroxyurea (HU) can improve the clinical course of sickle cell disease. However, several features of HU treatment remain unclear, including the predictability of drug response and determination of adequate doses, considering positive responses and minimal side effects. In order to identify adequate doses of HU for treatment of sickle cell disease, 10 patients, 8 with sickle cell anemia and 2 with Sß thalassemia (8SS, 2Sß), were studied for a period of 6 to 19 months in an open label dose escalation trial (10 to 20 mg kg-1 day-1). Hemoglobin (Hb), fetal hemoglobin (Hb F) and mean corpuscular volume (MCV) values and reticulocyte, neutrophil and platelet counts were performed every two weeks during the increase of the HU dose and every 4 weeks...

The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease

Palavras-chave: Sickle cell disease; Hydroxyurea; Hemoglobinopathy.

Ano: 1997

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997000800004

Moreira Neto,F.; Lourenço,D.M.; Noguti,M.A.E.; Morelli,V.M.; Gil,I.C.P.; Beltrão,A.C.S.; Figueiredo,M.S..

Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden), the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women), 29 with SS (sickle cell anemia; 28 years, range: 13-52 years) and 24 with SC (sickle-hemoglobin C disease; 38.5...

Renal dysfunction in patients with sickle cell anemia or sickle cell trait

Palavras-chave: Sickle cell disease; SC hemoglobinopathy; Sickle hemoglobinopathies; Inherited hypercoagulation states; MTHFR polymorphism.

Ano: 2006

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001000004

Sesso,R.; Almeida,M.A.; Figueiredo,M.S.; Bordin,J.O..

Patients with sickle cell anemia (Hb SS) or sickle cell trait (Hb AS) may present several types of renal dysfunction; however, comparison of the prevalence of these abnormalities between these two groups and correlation with the duration of disease in a large number of patients have not been thoroughly investigated. In a cross-sectional study using immunoenzymometric assays to measure tubular proteinuria, microalbuminuria, measurement of creatinine clearance, urinary osmolality and analysis of urine sediment, we evaluated glomerular and tubular renal function in 106 adults and children with Hb SS (N = 66) or Hb AS (N = 40) with no renal failure (glomerular filtration rate (GFR) >85 ml/min). The percentage of individuals with microalbuminuria was...