T-cell malignancies in Brazil have a high seroprevalence rate of HTLV-I antibodies. We have analyzed the disease features in 188 Brazilian patients with a T-cell disorder. These included 40 with T-lymphoblastic leukaemia or lymphoma (T-ALL/T-LbLy) and 148 with mature T-cell diseases: 5 T-prolymphocytic leukaemia, 53 adult T-cell leukaemia/lymphoma (ATLL), 54 cutaneous T-cell lymphomas, 29 pleomorphic T-cell lymphomas and 7 large granular lymphocyte leukaemia. The diagnosis was based on clinical, morphological and immunological features and HTLV-I serology. ATLL in Brazil has the same diseases features as in other endemic regions, the only apparent differences being: age, Brazilian patients being younger than Japanese, and ethnic grouping, one third of Brazilians being white Caucasians of European descent. We applied a scoring system based on the presence or absence of typical features associated with ATLL; hypercalcaemia, cell morphology, immunophenotype, histopathology and HTLV-I status, to see whether it may help in diagnosing cases of ATLL. All had high scores, whereas all other T-cell diseases scored low. Only 5 ATLL cases were HTLV-I-negative by serology, but they had otherwise typical features of ATLL, and their cells did not have HTLV-I proviral sequences by DNA analysis. Such cases suggest that ATLL may develop in a minority of individuals living in regions where it is endemic, without evidence of HTLV-I infection, and that other factors may contribute to the pathogenesis of the disease.

Objetivo. Descrever os principais resultados do programa de triagem neonatal para a doença falciforme do Estado do Rio de Janeiro em 15 meses de funcionamento (agosto de 2000 a novembro de 2001 Conclusões. Nossos dados evidenciam a importância do diagnóstico precoce da doença falciforme, de forma a prevenir e evitar as freqüentes complicações infecciosas enfrentadas por esses pacientes.Globinas, genética, anemia hemolítica congênita. RESUMOAs hemoglobinopatias compreendem um grupo de distúrbios hereditá-rios que afetam os genes responsáveis pela síntese globinas. Esses distúrbios são expressos como uma alteração qualitativa ou quantitativa da síntese das globinas, com menor sobrevida das hemácias e conseqüente anemia crônica. A incidência das hemoglobinopatias é de aproximadamente 4,5% na população mundial. Devido à alta incidência, essas desordens passaram a representar um grave problema de saúde pública em muitos países (1).Dentre as hemoglobinopatias, a doença falciforme (homozigose SS, dupla heterozigose SC, S beta talassemia e SD) é a patologia hereditária monogênica mais freqüente e a mais impactante, por sua alta prevalência e pela gravidade de suas manifestações clí-nicas. A doença atinge aproximadamente 2% da população da África equatorial. Antes da instalação de programas de triagem neonatal, apenas 2% das crianças doentes atingiam 5 anos de idade, sendo a infecção bacteriana a maior causa de complicações nesses pacientes, seguida por febre, seqüestro esplênico e síndrome mão-pé. Esses programas apontam para prevalência média de 2% da população triada (2). A doença é causada por uma mutação no gene da globina beta, que Palavras-chave

The contribution of human T-cell lymphotropic virus (HTLV-I) DNA by PCR in CSF and the intrathecal synthesis of antibodies to HTLV-I by the antibody index (AI) to the diagnosis of HTLV-1-associated myelopathy (HAM)/tropical spastic paraparesis (TSP) were evaluated. Cases of spastic paraparesis compatible with HAM/TSP had increased AI for HTLV-I (60/73) and HTLV-I proviral sequences in CSF (25/27). Among 27 patients with other neurologic diseases, three had increased AI and another three had positive HTLV-I DNA in CSF. Thus, the combination of PCR for proviral DNA and AI for HTLV-I in CSF provides consistent criteria for the diagnosis of HAM/TSP.

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The high proviral load in peripheral blood mononuclear cells or in CSF or both may be a good marker of human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and can differentiate patients with HAM/TSP from patients with multiple sclerosis infected with HTLV-I.