Follow-up of children with hemoglobinopathies diagnosed by the Brazilian Neonatal Screening Program in the State of Pernambuco

AbstractObjectiveTo determine the geographical distribution of hemoglobinopathies in the State of Pernambuco, to characterize the children with these diseases and to describe factors associated with their follow-up at the referral center during the period from 2003 to 2010.MethodsA retrospective, cross-sectional, descriptive study was carried out of 275 medical records from a total of 302 children with hemoglobinopathies diagnosed by the National Neonatal Screening Program in the State of Pernambuco in the study period. Microsoft Excel was used for data processing and analysis. The chi-square and the Fisher test were used for statistical analysis. The level of significance was set at 5%. Terra View software was used to analyze the geographical distribution of hemoglobinopathies in the State.ResultsA total of 8.9% of the cases of hemoglobinopathies detected in the period were not followed up at the referral center. For the mothers of children with diseases, this was their second or third or more pregnancy in 64.2% and 30.2%, respectively. Regarding the influence of region of residence and regular medical appointments, the study demonstrated that children from the Zona da Mata, Sertão and Vale do São Francisco regions did not attend 45.2%, 50% and 55.6% of their appointments in the outpatient department, respectively.ConclusionsThis study shows that a significant number of children do not begin consultations in the outpatient clinic and even those who started treatment early and who have the most severe form of the disease, usually miss medical appointments

The Ccr5Δ32 Polymorphism In Brazilian Patients With Sickle Cell Disease.

Previous studies on the role of inflammation in the pathophysiology of sickle cell disease (SCD) suggested that the CCR5Δ32 allele, which is responsible for the production of truncated C-C chemokine receptor type 5 (CCR5), could confer a selective advantage on patients with SCD because it leads to a less efficient Th1 response. We determined the frequency of the CCR5Δ32 polymorphism in 795 Afro-Brazilian SCD patients followed up at the Pernambuco Hematology and Hemotherapy Center, in Northeastern Brazil, divided into a pediatric group (3 months-17 years, n = 483) and an adult group (18-70 years, n = 312). The adult patients were also compared to a healthy control group (blood donors, 18-61 years, n = 247). The CCR5/CCR5Δ32 polymorphism was determined by allele-specific PCR. No homozygous patient for the CCR5Δ32 allele was detected. The frequency of heterozygotes in the study population (patients and controls) was 5.8%, in the total SCD patients 5.1%, in the children 5.4%, in the adults with SCD 4.8%, and in the adult controls 8.1%. These differences did not reach statistical significance. Our findings failed to demonstrate an important role of the CCR5Δ32 allele in the population sample studied here.201467824

Single Nucleotide Polymorphisms at +191 and +292 of Galectin-3 Gene (LGALS3) Related to Lower GAL-3 Serum Levels Are Associated with Frequent Respiratory Tract Infection and Vaso-Occlusive Crisis in Children with Sickle Cell Anemia

Submitted by Adagilson Silva ([email protected]) on 2017-06-05T13:08:05Z No. of bitstreams: 1 27603703 2016 men-sin.oa.PDF: 1008770 bytes, checksum: 82f0081628ade062bc08ce6be5782a03 (MD5)Approved for entry into archive by Adagilson Silva ([email protected]) on 2017-06-05T13:08:29Z (GMT) No. of bitstreams: 1 27603703 2016 men-sin.oa.PDF: 1008770 bytes, checksum: 82f0081628ade062bc08ce6be5782a03 (MD5)Made available in DSpace on 2017-06-05T13:08:29Z (GMT). No. of bitstreams: 1 27603703 2016 men-sin.oa.PDF: 1008770 bytes, checksum: 82f0081628ade062bc08ce6be5782a03 (MD5) Previous issue date: 2016Programa de Doutorado da Rede Nordeste de Biotecnologia. Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas e Faculdade de Ciências Médicas. Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas e Faculdade de Ciências Médicas. Recife, PE, Brasil.Universidade Federal de Pernambuco. Laboratório de Imunomodulação e Novas Abordagens Terapêutica (LINAT). Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas e Faculdade de Ciências Médicas. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Recife, PE, Brasil.Fundação Hematologia e Hemoterapia de Pernambuco (HEMOPE). Recife, PE, Brasil.Universidade Federal de Pernambuco. Departamento de Ciências Biológicas. Recife, PE, Brasil.Universidade Federal de Pernambuco. Laboratório de Imunomodulação e Novas Abordagens Terapêutica (LINAT). Recife, PE, Brasil.Universidade Federal de Pernambuco. Departamento de Ciências Biológicas. Recife, PE, Brasil.Fundação Hematologia e Hemoterapia de Pernambuco (HEMOPE). Recife, PE, Brasil.Universidade Federal de Pernambuco. Laboratório de Imunomodulação e Novas Abordagens Terapêutica (LINAT). Recife, PE, Brasil.Programa de Doutorado da Rede Nordeste de Biotecnologia. Recife, PE, Brasil / Universidade de Pernambuco. Instituto de Ciências Biológicas e Faculdade de Ciências Médicas. Recife, PE, Brasil.Programa de Doutorado da Rede Nordeste de Biotecnologia. Recife, PE, Brasil / Universidade de Pernambuco. Instituto de Ciências Biológicas e Faculdade de Ciências Médicas. Recife, PE, Brasil.Patients with sickle cell anemia (SCA) may present chronic hemolytic anemia, vaso-occlusion and respiratory tract infection (RTI) episodes. Galectin-3 (GAL-3) is a multifunctional protein involved in inflammation, apoptosis, adhesion and resistance to reactive oxygen species. Studies point to a dual role for GAL-3 as both a circulation damage-associated molecular pattern and a cell membrane associated pattern recognition receptor

Association of the SOD2 Polymorphism (Val16Ala) and SOD Activity with Vaso-occlusive Crisis and Acute Splenic Sequestration in Children with Sickle Cell Anemia

Submitted by Paulo Silva ([email protected]) on 2019-11-18T13:17:51Z No. of bitstreams: 1 Association of the SOD2 Polymorphism (Val16Ala) and SOD Activity with Vaso-occlusive Crisis and Acute Splenic Sequestration in Children with Sickle Cell Anemia.pdf: 335007 bytes, checksum: a614766bb4931821c7294ae8bbbed5e6 (MD5)Approved for entry into archive by Paulo Silva ([email protected]) on 2019-11-18T13:55:11Z (GMT) No. of bitstreams: 1 Association of the SOD2 Polymorphism (Val16Ala) and SOD Activity with Vaso-occlusive Crisis and Acute Splenic Sequestration in Children with Sickle Cell Anemia.pdf: 335007 bytes, checksum: a614766bb4931821c7294ae8bbbed5e6 (MD5)Made available in DSpace on 2019-11-18T13:55:11Z (GMT). No. of bitstreams: 1 Association of the SOD2 Polymorphism (Val16Ala) and SOD Activity with Vaso-occlusive Crisis and Acute Splenic Sequestration in Children with Sickle Cell Anemia.pdf: 335007 bytes, checksum: a614766bb4931821c7294ae8bbbed5e6 (MD5) Previous issue date: 2018FACEPEUniversidade de Pernambuco. Instituto de Ciências Biológicas. Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas. Recife, PE, Brasil / Universidade Federal Rural de Pernambuco. Programa de Pós-Graduação em Biotecnologia. Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas. Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas. Recife, PE, Brasil.Universidade Federal de Pernambuco. Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas. Recife, PE, Brasil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Recife, PE, Brasil.Universidade Federal de Pernambuco. Recife, PE, Brasil / Fundação de Hematologia e Hemoterapia de Pernambuco. Recife, PE, Brasil.Fundação de Hematologia e Hemoterapia de Pernambuco. Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas. Recife, PE, Brasil.Universidade Federal de Pernambuco. Recife, PE, Brasil.Fundação de Hematologia e Hemoterapia de Pernambuco. Recife, PE, Brasil.Universidade de Pernambuco. Instituto de Ciências Biológicas. Recife, PE, Brasil / Fundação de Hematologia e Hemoterapia de Pernambuco. Recife, PE, Brasil.The SOD2 polymorphism Val16Ala T→C influences the antioxidative response. This study investigated the association of the SOD2 polymorphism and superoxide dismutase (SOD) activity with the vaso-occlusive crisis (VOC) and acute splenic sequestration (ASS) in children with sickle cell anemia (SCA). One hundred ninety-five children with SCA aged 1-9 years old were analyzed. The TC and CC genotypes were associated with lower SOD activity compared with the TT genotype (p=0.0321; p=0.0253, respectively). Furthermore, TC and CC were more frequent in patients with VOC or ASS (p=0.0285; p=0.0090, respectively). These results suggest that the SOD2 polymorphism associated with low SOD activity could be a susceptibility factor for the occurrence of VOC and ASS

Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia

Abstract Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA

<i>LGALS3</i> +191 and +292 with vaso-occlusive crisis and respiratory tract infection in children with sickle cell anemia attended in Hemope Foundation—Recife/Brazil.

<p><i>LGALS3</i> +191 and +292 with vaso-occlusive crisis and respiratory tract infection in children with sickle cell anemia attended in Hemope Foundation—Recife/Brazil.</p

Single Nucleotide Polymorphisms at +191 and +292 of Galectin-3 Gene (<i>LGALS3</i>) Related to Lower GAL-3 Serum Levels Are Associated with Frequent Respiratory Tract Infection and Vaso-Occlusive Crisis in Children with Sickle Cell Anemia

<div><p>Introduction</p><p>Patients with sickle cell anemia (SCA) may present chronic hemolytic anemia, vaso-occlusion and respiratory tract infection (RTI) episodes. Galectin-3 (GAL-3) is a multifunctional protein involved in inflammation, apoptosis, adhesion and resistance to reactive oxygen species. Studies point to a dual role for GAL-3 as both a circulation damage-associated molecular pattern and a cell membrane associated pattern recognition receptor.</p><p>Objective</p><p>To investigate associations between the SNPs of GAL-3 gene (<i>LGALS3</i>) and serum levels with RTI and vaso-occlusive crisis (VOC) in children with SCA.</p><p>Materials and Methods</p><p>SNPs +191 and +292 in <i>LGALS3</i> were studied using the TaqMan real-time PCR system; GAL-3 serum levels were measured by ELISA. The study included 79 children with SCA ranging from 2 to 12 years old.</p><p>Results</p><p>GAL-3 serum levels were associated with <i>LGALS3</i> +191 and +292 genotypes (<i>p</i> <0.0001; <i>p</i> = 0.0169, respectively). <i>LGALS3</i> +191, AA genotype was associated with low and CC with higher levels of GAL-3. For <i>LGALS3</i> +292, the CC genotype was associated with lower GAL-3 and AA with higher levels. Patients with Frequency of RTI (FRTI) ≥1 presented higher frequency of +191AA (<i>p</i> = 0.0263) and +292AC/CC genotypes (<i>p</i> = 0.0320). SNP +292 was associated with Frequency of VOC (FVOC) (<i>p</i> = 0.0347), whereas no association was shown with SNP +191 and FVOC. However, CA/AC and AA/CC genotypes with lower GAL-3 levels showed a higher frequency in patients with FRTI ≥1 (<i>p</i> = 0.0170; <i>p</i> = 0.0138, respectively). Also, patients with FVOC ≥1 presented association with CA/AC (<i>p</i> = 0.0228). <i>LGALS3</i> +191 and +292 combined genotypes related to low (<i>p</i> = 0.0263) and intermediate expression (<i>p</i> = 0.0245) were associated with FRTI ≥1. Lower GAL-3 serum levels were associated with FRTI ≥1 (<i>p</i> = 0.0426) and FVOC ≥1 (<i>p</i> = 0.0012).</p><p>Conclusion</p><p>Variation of GAL-3 serum levels related to SNPs at +191 and +292 may constitute a susceptibility factor for RTI and VOC frequency.</p></div

<i>LGALS3</i> +191 and +292 diplotype of serum levels with vaso-occlusive crisis and respiratory tract infection in children with sickle cell anemia attended in Hemope Foundation—Recife/Brazil.

<p><i>LGALS3</i> +191 and +292 diplotype of serum levels with vaso-occlusive crisis and respiratory tract infection in children with sickle cell anemia attended in Hemope Foundation—Recife/Brazil.</p