RESUMEN
Hemophilia is an important hemorrhagic disease in Brazil, affecting about 1 out of every 10,000 males. Patient's self-perception of hemophilia and interaction with the community are relevant to the clinical management of this disease. We investigated several social, psychological, and community aspects of hemophilia in a Brazilian population (Campinas, São Paulo State), interviewing 30 hemophiliac males, a control sample comprised of 73 non-hemophiliac brothers, and 641 individuals from the community. According to our results, more severe social disability in the hemophiliac patient was related to economic factors, mainly unemployment; however, no difference was found in relation to marital status, reproduction, or education. Self-perception of changes in health and lifestyle by individuals with hemophilia showed frequent self-stigmatization, along with depression, anxiety, and insecurity. The community showed a widespread lack of familiarity with hemophilia (49%), viewing people with hemophilia with the kinds of prejudices often observed in relation to people with infectious diseases, like AIDS. The paper concludes by recommending that a community-based program be implemented to improve the social adjustment status of individuals with hemophilia.
Asunto(s)
Medicina Comunitaria , Genética Médica , Hemofilia A/genética , Hemofilia B/genética , Adulto , Anciano , Brasil , Femenino , Genética Conductual , Conocimientos, Actitudes y Práctica en Salud , Hemofilia A/psicología , Hemofilia B/psicología , Humanos , Relaciones Interpersonales , Masculino , Persona de Mediana Edad , AutoimagenRESUMEN
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.
Asunto(s)
Hemoglobinopatías/diagnóstico , Tamizaje Masivo/normas , Aceptación de la Atención de Salud , Evaluación de Programas y Proyectos de Salud , Adolescente , Adulto , Donantes de Sangre , Brasil/epidemiología , Niño , Preescolar , Enfermedad Crónica , Femenino , Asesoramiento Genético , Hemoglobinopatías/epidemiología , Hemoglobinopatías/genética , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Diagnóstico PrenatalRESUMEN
Sex ambiguity may be due to several disorders of gonadal differentiation, including true hermaphroditism (TH), as well as male and female pseudohermaphroditism. Although TH is a rare cause of intersex in Europe and North America, in Africa it presents one of the highest frequencies. The 46,XX karyotype has been found in the majority of the reported patients (70.6%), and aberrations in the sex chromosomes have been observed in about 22% of the cases. The 46,XY karyotype has been described as less frequent. Herein we describe ten cases of TH which have been diagnosed over the last 7 years, six lateral TH, two unilateral TH, and two cases of ovotestes with absent contralateral gonad. From a total of 18 gonads analyzed, there were 8 testes, 6 ovaries and 4 ovotestes. Nine subjects had originally a male sex assignment, and in three cases this was reverted to female. Four cases had a 46,XY karyotype. Additional sex chromosome aberrations had been found in four different cases [two 46,XX/46,XY, one 45,X/47,XYY, one 46,X,del(Yq)]. A 46,XX karyotype was found in only two individuals, and both were SRY negative. Our preliminary data, especially on the constitution of chromosomes and gonads, indicate marked differences from those in the literature.
Asunto(s)
Trastornos del Desarrollo Sexual/genética , Ovario/anomalías , Testículo/anomalías , Adolescente , Brasil , Diferenciación Celular/fisiología , Niño , Preescolar , Trastornos del Desarrollo Sexual/patología , Femenino , Humanos , Lactante , Cariotipificación , Masculino , Estudios RetrospectivosRESUMEN
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 sickle cell 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 psychotherapeutic 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.