The centralization of care for patients with sickle cell diseases through the creation of reference centers through the Ministry of Health Ordinance No. 1,018/2005, enabled better monitoring of these patients. This study characterized the sociodemographic and clinical profile of patients with sickle cell diseases treated at reference centers in the city of Salvador. Women represented the largest portion of patients registered at the centers and were older and more educated than men. More than 90.0% of patients are single, demonstrating the difficulty of people with sickle cell disease to socialize due to the stigma of the disease. The most common clinical manifestations were pain crises and jaundice, and the most common complications were hospitalizations due to pain crises and blood transfusion. Associations were observed between sex and stroke, between genotype and lower limb ulcers and blood transfusion. A low percentage of patients with osteonecrosis (8.8%) was also observed, indicating possible underreporting. The low percentages of patients who use morphine and hydroxyurea point to the need to expand the offer of these drugs to reduce pain crises and improve the quality of life of patients.

La centralización de la atención a los pacientes con anemia falciforme mediante la creación de centros de referencia a través de la Ordenanza del Ministerio de Salud Nº 1.018 / 2005, permitió un mejor seguimiento de estos pacientes. Este estudio caracterizó el perfil sociodemográfico y clínico de los pacientes con drepanocitosis atendidos en centros de referencia de la ciudad de Salvador. Las mujeres representaban la mayor parte de los pacientes registrados en los centros y eran mayores y tenían más educación que los hombres. Más del 90,0% de los pacientes son solteros, lo que demuestra la dificultad de las personas con anemia falciforme para socializar debido al estigma de la enfermedad. Las manifestaciones clínicas más frecuentes fueron crisis de dolor e ictericia, y las complicaciones más frecuentes fueron hospitalizaciones por crisis de dolor y transfusión de sangre. Se observaron asociaciones entre sexo y accidente cerebrovascular, entre genotipo y úlceras de miembros inferiores y transfusión de sangre. También se observó un bajo porcentaje de pacientes con osteonecrosis (8,8%), lo que indica un posible subregistro. Los bajos porcentajes de pacientes que utilizan morfina e hidroxiurea apuntan a la necesidad de ampliar la oferta de estos fármacos para reducir las crisis de dolor y mejorar la calidad de vida de los pacientes.

A centralização do atendimento dos pacientes com doenças falciformes através da criação de centros de referência possibilitou um melhor acompanhamento desses pacientes. Este estudo caracterizou o perfil sociodemográfico e clínico dos pacientes com doenças falciformes atendidos nos centros de referência no município de Salvador. Os resultados deste estudo corroboram com a literatura e podem ajudar a melhorar os serviços oferecidos nos centros de referência pesquisados. As mulheres representaram a maior parcela dos pacientes registrados nos centros e com maior faixa etária e escolaridade do que os homens. Mais de 90,0% dos pacientes são solteiros, demonstrando a dificuldade das pessoas com doenças falciformes se socializarem devido ao estigma da doença. As manifestações clínicas mais comuns foram as crises álgicas e a icterícia e as intercorrências mais comuns foram internações devido as crises álgicas e hemotransfusão. Foram observadas associações entre sexo e acidente vascular cerebral, entre o genótipo e úlceras de membros inferiores e hemotransfusão. Também foi observado um percentual baixo de pacientes com osteonecrose indicando possível subnotificação. Os percentuais baixos de pacientes que fazem uso da morfina e hidroxiureia apontam para a necessidade de ampliar a oferta desses medicamentos para diminuir as crises álgicas e melhorar a qualidade de vida dos pacientes.

BACKGROUND: The most common hereditary hemoglobin disorder, affecting 20 million individuals worldwide, is sickle cell disease. The vascular obstruction resulting from the sickling of cells in this disease can produce local hypoxemia, pain crises and infarction in several tissues, including the bones, spleen, kidneys and lungs. METHODS: The present study is characterized as a case control study, with the aim of identifying the baseline blood lactate concentration in individuals with hemoglobin SS and SC diseases. One-way ANOVA with the Tukey post-test was used to analyze the results and a p-value < 0.05 was considered significant. Calculations were made using the INSTAT statistical program. The graphs were generated using the ORING program. The study sample was composed of 31 men and women residing in the city of Santo Antônio de Jesus, Bahia, Brazil. The individuals were divided into two groups: Group GC of 16 subjects who did not present with any type of structural hemoglobinopathy; and Group GE composed of 15 individuals with ages between 2 and 35 years old, who had the SS and SC genotypes. Sample analyses were performed with 3 mL of blood during fasting. RESULTS: The baseline blood lactate concentration of the SS and SC individuals was higher than that of the control group (p<0.001) with means of 4.86 ± 0.95; 3.30 ± 0.33; 1.31 ± 0.08 IU/L for SS, SC and controls, respectively. This corroborates the initial research hypothesis. CONCLUSION: The baseline blood lactate of SS and SC individuals is 3 to 4 times higher than that of healthy subjects, probably due to the fact that these patients have a metabolic deviation to the anaerobic pathway.

Five restriction site polymorphisms in the β-globin gene cluster (HincII-5'ε, HindIII-Gγ, HindIII-ªγ, HincII-'ψβ1 and HincII-3''ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of Bahia, Brazil. The groups included two urban populations from the towns of Cachoeira and Maragojipe and one rural Afro-descendant population, known as the "quilombo community", from Cachoeira municipality. The number of haplotypes found in the populations ranged from 10 to 13, which indicated higher diversity than in the parental populations. The haplotypes 2 (+----),3(----+),4(-+--+)and6(-++-+)onthe βA chromosomes were the most common, and two haplotypes, 9 (-++++)and 14 (++--+), were found exclusively in the Maragojipe population. The other haplotypes (1, 5, 9, 11, 12, 13, 14 and 16) had lower frequencies. Restriction site analysis and the derived haplotypes indicated homogeneity among the populations. Thirty-two individuals with hemoglobinopathies (17 sickle cell disease, 12 HbSC disease and 3 HbCC disease) were also analyzed. The haplotype frequencies of these patients differed significantly from those of the general population. In the sickle cell disease subgroup, the predominant haplotypes were BEN (Benin) and CAR (Central African Republic), with frequencies of 52.9% and 32.4%, respectively. The high frequency of the BEN haplotype agreed with the historical origin of the afro-descendant population in the state of Bahia. However, this frequency differed from that of Salvador, the state capital, where the CAR and BEN haplotypes have similar frequencies, probably as a consequence of domestic slave trade and subsequent internal migrations to other regions of Brazil.

Em 2001, a Portaria n. 822/2001 do Ministério da Saúde tornou obrigatória a triagem neonatal para as hemoglobinopatias, especialmente a anemia falciforme, a doença genética mais comum no Brasil. A Bahia, em decorrência de sua história de povoamento, é o Estado com maior prevalência dessa doença no país. No presente trabalho, apresentamos a cobertura da triagem neonatal (número de recém-nascidos/número de triagens realizadas) no período de 2001 a 2003 nos municípios de Cachoeira, São Félix e Maragogipe, localizados na região do Recôncavo Baiano, e a freqüência das hemoglobinas variantes HbS e HbC na população dos mesmos municípios, com exceção de São Félix. A freqüência total estimada de portadores para as duas hemoglobinas nessas populações foi de 13,0% e nos recém-nascidos de 8,5% em 2001, 6,5% em 2002 e 11,6% em 2003. A cobertura da triagem neonatal, quando se considera o período de 2001 a 2003, caiu de 82,6% para 46,4% no Município de Cachoeira, aumentou de 23,7% para 56,2% em Maragogipe e em São Félix atingiu 100%. Os dados aqui apresentados apontam para a necessidade de um melhor preparo dos serviços de saúde pública na maioria dos municípios analisados do Recôncavo Baiano para a cobertura da triagem neonatal.

In 2001, government ruling n. MS 822/01 by the Brazilian Ministry of Health made neonatal screening mandatory for hemoglobinopathies, with special focus on sickle cell disease, the most common hemoglobinopathy in Brazil. Bahia is the State of Brazil with the highest prevalence of this disease. The current paper reports on the prevalence of hemoglobin variants HbS and HbC, which cause sickle cell disease, in the cities of Cachoeira, Maragogipe, and São Félix, Bahia State. The overall proportion of carriers for the two forms of hemoglobin was 13%. From 2001 to 2003, the neonatal screening rate decreased from 82.6% to 46.4% in Cachoeira and increased from 37.0% to 56.2% in Maragogipe. Thus, only about one-half of children are being tested in these cities. The findings show that the public health care system in these cities is poorly prepared to screen for sickle cell disease in newborns and that there was a lack of health care personnel to follow up on newly diagnosed sickle cell patients or carriers of the sickle cell trait.

Em 2001, a Portaria n. 822/2001 do Ministério da Saúde tornou obrigatória a triagem neonatal para as hemoglobinopatias, especialmente a anemia falciforme, a doença genética mais comum no Brasil. A Bahia, em decorrência de sua história de povoamento, é o Estado com maior prevalência dessa doença no país. No presente trabalho, apresentamos a cobertura da triagem neonatal (número de recém-nascidos/número de triagens realizadas) no período de 2001 a 2003 nos municípios de Cachoeira, São Félix e Maragogipe, localizados na região do Recôncavo Baiano, e a freqüência das hemoglobinas variantes HbS e HbC na população dos mesmos municípios, com exceção de São Félix. A freqüência total estimada de portadores para as duas hemoglobinas nessas populações foi de 13,0% e nos recém-nascidos de 8,5% em 2001, 6,5% em 2002 e 11,6% em 2003. A cobertura da triagem neonatal, quando se considera o período de 2001 a 2003, caiu de 82,6% para 46,4% no Município de Cachoeira, aumentou de 23,7% para 56,2% em Maragogipe e em São Félix atingiu 100%. Os dados aqui apresentados apontam para a necessidade de um melhor preparo dos serviços de saúde pública na maioria dos municípios analisados do Recôncavo Baiano para a cobertura da triagem neonatal.

In 2001, government ruling n. MS 822/01 by the Brazilian Ministry of Health made neonatal screening mandatory for hemoglobinopathies, with special focus on sickle cell disease, the most common hemoglobinopathy in Brazil. Bahia is the State of Brazil with the highest prevalence of this disease. The current paper reports on the prevalence of hemoglobin variants HbS and HbC, which cause sickle cell disease, in the cities of Cachoeira, Maragogipe, and São Félix, Bahia State. The overall proportion of carriers for the two forms of hemoglobin was 13%. From 2001 to 2003, the neonatal screening rate decreased from 82.6% to 46.4% in Cachoeira and increased from 37.0% to 56.2% in Maragogipe. Thus, only about one-half of children are being tested in these cities. The findings show that the public health care system in these cities is poorly prepared to screen for sickle cell disease in newborns and that there was a lack of health care personnel to follow up on newly diagnosed sickle cell patients or carriers of the sickle cell trait.