Caracterização molecular e laboratorial da talassemia beta e da interação hemoglobina s/talassemia beta

Beta thalassemia arises as a consequence of the reduction (β+, β++, βsilent) or absence (β0) of beta globin chain synthesis and results from a number of mechanisms that lead to genetic defects. The inheritance of beta thalassemia is characterized by the existence of heterozygous individuals, compound heterozygotes, homozygotes and those with coinheritance of beta thalassemia allele and other thalassemias and/or hemoglobin variants. The aim of this study was to perform molecular and laboratory characterization of beta thalassemia in heterozygous and homozygous individuals and in those with coinheritance of S beta thalassemia. A total of 48 individuals were included (35 heterozygotes, 4 homozygotes and 9 S beta thalessemia carriers) referred to the Integrated Laboratory of Clinical Analyses of the Federal University of Rio Grande do Norte (UFRN) and the Hematology Ambulatory Facility of the Dalton Barbosa Cunha Hemocenter (Hemonorte Natal, Brazil). Peripheral blood samples form each patient underwent the following laboratory examinations: erythrogram, hemoglobin electrophoresis at alkaline pH, measurements of Hb A2, Fetal Hb and serum ferritin. DNA was extracted using the illustra blood genomicPrep Mini Spin Kit and molecular characterization was performed by the PCR/RFLP technique, which involves digestion with specific restriction enzymes for IVS-1 nt 1 (G®A), IVS-1 nt 6 (T®C) and codon 39 (CAG®TAG) mutations. Of the 35 heterozygotes, 37.1% showed IVS-1 nt 6 mutation, 42.9% IVS-1 nt 1 and 20% were carriers of other mutations not identified by the technique used. The four homozygous patients presented with the IVS-1 nt 6 mutation, while 66.7% of the individuals with S beta thalassemia had the IVS-1 nt 1 mutation. Codon 39 was not detected in any of the patients investigated. Of the thallasemic alleles found, 40.4% were IVS- 1 nt 1, 40.4% IVS-1 nt 6 and 19.2% were not identified. Laboratory data showed that the heterozygotes exhibited microcytosis and hypochromia, evidenced by MCV ranging from 57 to 75fL and MCH from 15.9 to 23.6 pg. Hemoglobin A2 varied between 3.7 and 7.2%. The homogygotes also showed reduced MCV and MCH and elevated HbA2.. Comparison of laboratory data between heterozygous individuals with IVS-1 nt 1 and IVS-1 nt 6 mutations showed that heterozygotes for the IVS1-1 mutation had significantly lower mean MCV and MCH (p = 0.023 and 0.007, respectively) and significantly higher hemoglobin A2 (p < 0.001) when compared to heterozygotes for the IVS-1 nt 6 mutation. PCR/RFLP was useful in identifying the presence or absence of IVS-1 nt 6, IVS-1 nt 1 and codon 39 mutations in most of the patients investigated here. This is the first study conducted in the state of Rio Grande do Norte, Brazil aimed at identifying beta thalassemia mutations and represents an important contribution to the knowledge regarding the molecular profile of beta thalassemia in our country

Estratégias de enfrentamento de pessoas vivendo com AIDS frente à situação da doença

The Acquired Immune Deficiency Syndrome (AIDS), considered today one chronic nature of the disease due to the advent of antiretroviral therapy (TARV), brings to individuals living with this disease, difficulties related to social interaction and adaptation to new physical condition and the routines imposed by the treatment. This reality has a strong impact on the lives of these people in order of overcoming them use coping strategies, Coping. In this context, the aim of this study was to characterize the epidemiological, clinical and life habits of people living with AIDS and analyze the coping strategies used with the situation of the disease, according to sociodemographic, clinical and life habits. This is a cross-sectional study with a quantitative approach. The sample consisted of 331 people registered at the clinic of the Hospital Giselda Trigueiro (HGT), located in Natal / RN, who had scheduling for outpatient medical consultation from January to August 2014. The study was approved by the Ethics Committee the Federal University of Rio Grande do Norte with the Presentation of Certificate for Ethics Assessment (CAAE), paragraph 16578613.0.0000.5537. The data of social characterization showed predominance of men (52%), young people (42%) coming from the capital (58%), mulatto (53%), single (56%), heterosexual (79%), poor (68 %). With regard to clinical aspects it has been found that most held the first HIV testing for less than five years (60%) had signs and symptoms of AIDS before the examination (90%) were hospitalized (90%) started ART for less than five years (60%) believe they have good knowledge of the disease (75%) and believe that their health has improved (92%). For lifestyle, it became clear that most do not consume alcohol (71%), do not smoke (88%) and do not use illicit drugs (92%) and never used condoms before diagnosis (62%) and only 192 (58%) use the currently codon. With regard to the reference was higher coping focused modes of emotion, although the problem solving has been the second most common. The mean scores of women, workers, religious and never abandoned the treatment were higher for all factors. Having a partner, living with family members and support in the treatment had higher average scores for various factors, coinciding in the confrontation, withdrawal and social support. As for the leisure and physical exercise also dominated the modes focused on emotion as was seen in the correlation between the time of treatment, education and family income and IEEFL factors, although with low intensity. The profile of the study population confers with national characteristics, suggesting feminization, internalization, pauperization, heterosexual, increased CD4 cell count and viral load reduction during treatment and maintaining healthy lifestyle habits. Coping strategies used were more focused on emotion. In this context, it is understood that the identification of these strategies can facilitate care planning, encouraging such persons to adapt to stressors with the situation of the disease