Antonio Sérgio Ramalho

A anemia falciforme como problema de Saúde Pública no Brasil

Sickle cell anemia is the most prevalent hereditary disease in Brazil. However, the Brazilian literature registers no investigations into the public health aspects of the disease. This present study investigates the way of life of 80 adult patients (49 women and 31 men) with a diagnosis of sicklecell anemia, at a blood center in Brazil. The late diagnosis of the disease was one of the most significant aspects observed in this group of patients. It was also observed that the dominant problem faced by adult patients with sickle cell anemia is of an economic nature, mainly due to lack of professional opportunities. However, patients can well undertake economic activities under adequate medical supervision, according to their own limitations and potentialities. The psychoterapeutic orientation was well accepted by patients regardless of sex. It is concluded that there exists need for the establishment of community programs for early diagnosis and medical, social and psychological orientation for sickle cell anemia patients in Brazil.

A Portaria nº 822/01 do Ministério da Saúde e as peculiaridades das hemoglobinopatias em saúde pública no Brasil

By including hemoglobinopathies in the National Neonatal Screening Program (PNTN), Brazilian Ministry of Health Directive # 822/01 has taken an important step towards recognition of their relevance for public health in the country. However, except at a few specialized centers, the public health care system is unprepared to meet the goals laid out under the directive. As the first step to effectively implement the guidelines, it is thus necessary to disseminate information on hemoglobinopathies among health professionals working in public health, especially those involved in neonatal screening. This article discusses some of the unique characteristics of hemoglobinopathies in comparison to other metabolic disorders included in the National Neonatal Screening Program. The authors also analyze potential sources of misunderstanding that could jeopardize the programs outcome.

Investigação genético-epidemiológica e molecular da deficiência de G-6-PD em uma comunidade brasileira

Abstract This paper reports on a study of the G-6-PD deficiency in Braganca Paulista, SaoPaulo State, Brazil. A total of 4,621 male blood donors were investigated over a 36-month period.Of these, 80 had the G-6-PD deficiency. Molecular analysis was performed on 70 unrelated G-6-PD deficients through DNA amplification followed by digestion with restriction enzymes andsingle strand conformation polymorphism analysis (SSCP). In 98.6%, the G-6-PD A- (202 G → A)mutation was observed through digestion of exon 4 with Nla III. The presence of an uncommonmutation in exon 9 was also observed through SSCP. No case of the Mediterranean variant wasobserved. These results indicate that the A- (202G → A) variant, almost exclusive, was introducedinto the community not only by individuals of African origin, but also by European immigrants,mainly Italian, Spanish, and Portuguese. The Italian contribution in terms of the G-6-PDMediterranean variant was smaller than its contribution to beta thalassemia, probably due tothe Northern Italian origin of these immigrants.This paper reports on a study of the G-6-PD deficiency in Braganca Paulista, Sao Paulo State, Brazil. A total of 4,621 male blood donors were investigated over a 36-month period. Of these, 80 had the G-6-PD deficiency. Molecular analysis was performed on 70 unrelated G-6-PD deficients through DNA amplification followed by digestion with restriction enzymes and single strand conformation polymorphism analysis (SSCP). In 98.6%, the G-6-PD A- (202 G®A) mutation was observed through digestion of exon 4 with Nla III. The presence of an uncommon mutation in exon 9 was also observed through SSCP. No case of the Mediterranean variant was observed. These results indicate that the A- (202G®A) variant, almost exclusive, was introduced into the community not only by individuals of African origin, but also by European immigrants, mainly Italian, Spanish, and Portuguese. The Italian contribution in terms of the G-6-PD Mediterranean variant was smaller than its contribution to beta thalassemia, probably due to the Northern Italian origin of these immigrants.This paper reports on a study of the G-6-PD deficiency in Bragança Paulista, São Paulo State, Brazil. A total of 4,621 male blood donors were investigated over a 36-month period. Of these, 80 had the G-6-PD deficiency. Molecular analysis was performed on 70 unrelated G-6-PD deficients through DNA amplification followed by digestion with restriction enzymes and single strand conformation polymorphism analysis (SSCP). In 98.6%, the G-6-PD A- (202 G<--A) mutation was observed through digestion of exon 4 with Nla III. The presence of an uncommon mutation in exon 9 was also observed through SSCP. No case of the Mediterranean variant was observed. These results indicate that the A- (202G<--A) variant, almost exclusive, was introduced into the community not only by individuals of African origin, but also by European immigrants, mainly Italian, Spanish, and Portuguese. The Italian contribution in terms of the G-6-PD Mediterranean variant was smaller than its contribution to beta thalassemia, probably due to the Northern Italian origin of these immigrants.

Riscos e benefícios da triagem genética: o traço falciforme como modelo de estudo em uma população brasileira

A triagem populacional de heterozigotos assintomaticos para fins de orientacao genetica e um procedimento bastante controvertido, por envolver o risco de rotulacao, discriminacao, estigmatizacao, perda de auto-estima e invasao de privacidade. Assim sendo, investigou-se no presente trabalho os efeitos da orientacao genetica fornecida a individuos diagnosticados como heterozigotos do gene da hemoglobina S (heterozigotos AS, portadores do traco falciforme) durante a triagem de doadores de sangue. Foram convidados por carta 92 doadores AS para receber orientacao genetica gratuita e individualizada, 66 dos quais (72%) aceitaram o convite. Cerca de 50% dos individuos trouxeram a parceira e/ou os filhos para investigacao laboratorial das hemoglobinopatias, identificando-se assim alguns casais de risco e algumas criancas com anemia hemolitica cronica. Seis meses apos o fornecimento da orientacao genetica, foi possivel avaliar por entrevista pessoal ou por carta-questionario 43 doadores AS (65%), constatando-se uma boa assimilacao das informacoes fornecidas. A orientacao genetica nao produziu mudancas significativas na vida da maioria dos individuos e os riscos teoricos da orientacao genetica nao aparecem de forma preocupante na casuistica examinada. Foram constatados de forma esporadica, no entanto, indicios de estigmatizacao, rotulacao, discriminacao, perda da auto-estima e invasao de privacidade.Population screening of asymptomatic heterozygotes for genetic guidance purposes is a very controversial procedure due to the risk of labeling, discrimination, stigmatization, loss of self-esteem, and invasion of privacy. Effects of genetic counseling supplied to blood donors with the sickle cell trait (AS heterozygotes) were investigated. Ninety-two AS donors were invited by letter to a free, individual orientation session; 66 of them (72%) accepted the invitation. Some 50% of the individuals brought their wives and children for examination, thus allowing identification of several at-risk couples (13%) and children with sickle cell anemia (5%). Six months afterwards 43 AS donors (65%) were reevaluated, whereby it was observed that the information had been well assimilated. The theoretical risks of genetic screening did not appear to be cause for concern in most of the cases examined. However, signs of stigma, labeling, discrimination, loss of self-esteem, and invasion of privacy were evidenced in a few cases.

Programa comunitário de hemoglobinopatias hereditárias em população estudantil brasileira

This study tested the viability and efficiency of a hereditary hemoglobinopathy program in which a Brazilian community the town of Bragança Paulista, SP (Brazil)-was involved, were tested focusing school students. The screening of the hemoglobinopathies was done through optional exams for patients by using electrophoresis of hemoglobins and complementary hematological tests. A total of 1,171 individuals, including, 1,118 pupils and 53 of their relatives were tested over a period of 24 months. A total of 47 individuals with hereditary hemoglobin changes were detected-4.0% of the samples examined. The community was fairly receptive to the program which showed a general level of acceptance of 55.4%. The study aroused the interest of the community and motivated the implantation of a special service for diagnosis, genetic counseling and treatment of the hemoglobinopathy carriers in the community where it was undertaken.This study tested the viability and efficiency of a hereditary hemoglobinopathy program in which a Brazilian community the town of Braganca Paulista, SP (Brazil) - was involved, were tested focusing school students.The screening of the hemoglobinopathies was done through optional exams for patients by using electrophoresis of hemoglobins and complementary hematological tests. A total of 1,171 individuals, including, 1,118 pupils and 53 of their relatives were tested over a period of 24 months. A total of 47 individuals with hereditary hemoglobin changes were detected - 4.0% of the samples examined. The community was fairly receptive to the program which showed a general level of acceptance of 55.4%. The study aroused the interest of the community and motivated the implantation of a special service for diagnosis, genetic counseling and treatment of the hemoglobinopathy carriers in the community where it was undertaken.Foram testadas a viabilidade e a eficiencia de um programa comunitario de investigacao em hemoglobinopatias, focalizando estudantes de primeiro e segundo graus, de Braganca Paulista, Estado de Sao Paulo, (Brasil). A triagem das hemoglobinopatias foi oferecida em carater opcional, sendo realizada pela eletroforese de hemoglobinas e exames hematologicos complementares. Em um periodo de 24 meses foram examinados 1.118 estudantes e 53 parentes dos mesmos, em um total de 1.171 pessoas. Foram diagnosticados 47 individuos com alteracoes hereditarias da hemoglobina ( 4,0% da amostra examinada). A comunidade de estudantes mostrou razoavel receptividade ao programa, com indice geral de aceitacao a realizacao dos exames laboratoriais de 55,4%. A investigacao despertou o interesse da comunidade, levando a implantacao de um servico especializado de diagnostico, orientacao e tratamento de hemoglobinopatias hereditarias na cidade onde a pesquisa foi realizada.

Community Genetics: a new discipline and its application in Brazil

Community genetics is a new discipline which aims to provide genetic services to the community as a whole. As a science, community genetics encompasses all research needed to develop and evaluate its application. There is no question that the development of community genetics is necessary in Brazil. The implementation of such programs in our country, especially for hemoglobinopathies, has been recommended by the World Health Organization and other international organizations. Apart from the need for and appeal of community genetics programs, some aspects require serious review. This article discusses various cultural, social, psychological, and economic factors that can make genetic screening an invasion of individual privacy.

Hemoglobin screening: response of a Brazilian community to optional programs

The efficiency and the viability of three hemoglobin screening programs were investigated. They were offered on a voluntary basis to a Brazilian population and started with the analysis of blood donors, pregnant women and students. The hemoglobin screening was done through optional exams which included electrophoresis of hemoglobin and complementary hematological tests. A total of 13,670 people were tested over a period of 39 months and a total of 644 individuals with hereditary hemoglobin disorders were detected - 4. 7% of the samples examined. The programs showed satisfactory indicators of viability and efficiency, expressed by the significative proportion of exams performed among the probands and their relatives.

A Portaria MS n. ° 822/01 e a triagem neonatal das hemoglobinopatias

The government directive MS 822/01 of the Brazilian Ministry of Health, regulates neonatal screening of many metabolic disorders, including sickle cell diseases and other hemoglobinopathies. In the present paper the authors discuss various medical and ethical aspects of neonatal screening for the hemoglobinopathies, the genetic counseling as part of medical responsibilities, and the risks inherent to population programs, which must be known and prevented by the professionals committed to and working in the field of neonatal screening.

Aconselhamento genético do paciente com doença falciforme

O aconselhamento genetico e um componente importante da conduta medica na doenca falciforme, apresentando relevantes implicacoes medicas, psicologicas, sociais, eticas e juridicas. No presente trabalho sao apresentadas as consideracoes sobre esse processo, elaboradas pelo Servico de Aconselhamento Genetico em Hemoglobinopatias da Unicamp, mediante solicitacao do Programa Nacional de Atencao Integral as Pessoas com Doenca Falciforme e outras Hemoglobinopatias do Ministerio da Saude.

Genetics and prevention of blindness

PURPOSE To verify the perception of Brazilian ophthalmologists regarding the role played by Genetics in their routine medical activity and their conduct when dealing with patients, with hereditary diseases who need genetic counseling. METHODS A cross-sectional survey was conducted by means of invitations to participate in an interview on this subject. The questionnaires were sent to 200 ophthalmologists who work in the area of Campinas, SP, Brazil. RESULTS Among the 73 professionals who answered the questionnaire (36%), there was a high rate of positive answers (49-88%) concerning their knowledge of genetics and a low rate (10-33%) of use of this knowledge in their clinical practice. The frequency of genetic ophthalmopathies in clinical practice was relevant in the opinion of 68% of the interviewees; 92% indicated a relevant relationship between genetically determined ocular disorders and the prevention of blindness through detection, early treatment and genetic counseling. More extensive genetic knowledge was considered indispensable to 84% of the professionals, but 16% answered that it was irrelevant. CONCLUSIONS Although these ophthalmologists have basic notions of genetics (88,0%) and are aware of its importance in the prevention of blindness, a great majority of Brazilian ophthalmologists have not acquired adequate knowledge of genetics and, in practice, rarely use its therapeutic and preventive potential.