A anemia falciforme, expressão clínica dos homozigotos do gene da hemoglobina S, é a doença hereditária mais freqüente no Brasil. Apesar disso, a metodologia genético-epidemiológica raramente é usada nos estudos brasileiros sobre essa alteração. No presente estudo foram analisados, por meio de um software específico, os dados de 817 heterozigotos do gene da HbS (513 homens e 304 mulheres), não consangüíneos, com idades entre 18 e 65 anos, detectados voluntariamente na cidade de Campinas, SP, Sudeste do Brasil. A constituição genômica caucasóide, negróide e indígena foi avaliada na amostra de portadores da hemoglobina S através do estudo das freqüências alélicas do sistema sangüíneo ABO e comparada com a observada na população geral da mesma cidade. A análise dos dados demonstrou que 52% dos portadores da HbS tiveram sua ancestralidade africana evidenciada pelo seu fenótipo e que 36% dos indivíduos eram procedentes do Nordeste do Brasil, sobretudo da Bahia (15%). Essa imigração interna tende a diminuir a proporção do haplótipo Bantu da hemoglobina S (mais grave) na região de Campinas, aumentando a proporção do haplótipo Benin (mais benigno). A amostra possui um componente gênico negróide de 45%, caucasóide de 41%, e indígena de 14%. Essa composição genômica é significativamente diferente da observada na população geral da mesma cidade, apresentando uma participação gênica maior de negróides e de indígenas (influência da imigração nordestina) e menor de caucasóides. A imigração nordestina e a miscigenação alteraram significativamente o perfil genético-epidemiológico dos portadores da hemoglobina S na região de Campinas, SP.

Sickle cell anemia, the clinical expression of individuals homozygous for the hemoglobin S gene, is the most frequent hereditary disease in Brazil. Nevertheless, a genetic-epidemiological approach is rarely used in Brazilian studies related to this alteration. In the present study, using a specific computer program, data from 817 (513 males and 304 females) non-consanguineous individuals heterozygous for the hemoglobin S gene were studied. The participants, with ages varying from 18 to 65 years old, live from the region of Campinas, Southeastern Brazil. The Caucasoid, Negroid and native Indian genomic backgrounds of this sample were evaluated by a study of allelic frequencies for the ABO blood group system and compared with those observed in the general population from the same city. Data analysis showed that: 52% of the hemoglobin S carriers had African ancestry as shown by their phenotypes and that 36% of the subjects came from North-eastern Brazil, most from the state of Bahia (15%). This internal migration tends to decrease the proportion of the hemoglobin S Bantu (wild) haplotype in the region of Campinas, by increasing the proportion of the Benin haplotype (milder). The frequencies of this sample were Negroes 45%, Caucasians 41%, and native Indians 14%. This genomic constitution is significantly different from that observed in the general population from the same city with greater frequencies of Negroes and native Indians and a lower frequency of Caucasians. Migration from the northeastern and miscegenation have significantly altered the genetic-epidemiological profile of hemoglobin S carriers in the region of Campinas.

PURPOSE: To evaluate a new method designed for estimating the tumor extent in radical prostatectomy specimens. The tumor extent was correlated to preoperative PSA and to several pathologic findings in the surgical specimens as well. MATERIALS AND METHODS: Tumor extent was estimated in 118 consecutive radical prostatectomies through a simple point-count method. Drawn on a sheet of paper, each quadrant of the whole mount sections contained 8 equidistant points. During the microscopic slides examination, the tumor area was drawn over the correspondent quadrant of the paper sheet. According to the extent, tumors were classified in 5 groups: 1) very limited: £ 10 positive points; 2) limited: 11-19 positive points; 3) moderately extensive: 20-35 positive points; 4) extensive: 36-39 positive points; 5) very extensive: 70 positive points. This classification was based on a previous analysis of tumor extent in 109 radical prostatectomies. The distribution was quite normal up to 69 positive points, but asymmetric above that number, including cases exceeding far above that value. We considered the quartiles of the normal distribution up to 69 positive points (groups 1 to 4), and above that value a fifth group was considered. RESULTS: There was a statistically significant and direct correlation between the tumor extent and all variables studied: preoperative PSA (p = 0.03), Gleason score (p < 0.0001), primary grade in high-grade tumors (p < 0.01), surgical margins (p < 0.0001), extraprostatic extension (pT3a) (p < 0.0001), and seminal vesicle invasion (pT3b) (p = 0.01). CONCLUSIONS: The method, which is simple and well correlated to other prognostic factors, is accessible to those pathologists working in routine pathology laboratories. Whether this method will be used by other urology centers is yet to be seen.

A Portaria do Ministério da Saúde n.º 822/01 regulamentou a triagem neonatal de vários distúrbios metabólicos, incluindo as doenças falciformes e outras hemoglobinopatias. No presente trabalho, os autores comentam vários aspectos médicos e éticos da triagem neonatal das hemoglobinopatias, o aconselhamento genético como parte da responsabilidade médica e os riscos inerentes aos programas populacionais, que merecem ser conhecidos e prevenidos pelos profissionais que atuam na área de triagem neonatal.

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.