Detection of factor V Leiden in Thai patients with venous thrombosis.

The molecular defect underlying activated protein C resistance (APC-R) is caused by a G to A point mutation in the codon for arginine 506 in the factor V gene (factor V Leiden) which is a major risk factor for venous thrombosis, especially in Caucasian populations. This study is an analysis of the Thai population to determine the prevalence of the factor V Leiden mutation. Twenty-seven patients with apparent venous thrombosis were divided into two groups according to APC-R test. Thirteen patients were diagnosed as positive for n-APC-SR, ratio < 0.8 and fourteen patients were diagnosed as negative for n-APC-SR, ratio > 0.8. Two of thirteen APC-R positive patients and one of fourteen APC-R negative patients were found to have the heterozygous allele for the factor V Leiden mutation but the homozygous allele was not detected in these groups of patients. Neither the heterozygous nor homozygous Leiden mutation was detected in 200 healthy volunteer blood donors. In conclusion, our findings indicate that factor V Leiden mutation is related to venous thrombosis in Thai people. Moreover, a further study of other mutations at the activated protein C cleavage sites of factor V and factor VIII is recommended.

Evidence for the presence of a kininogen-like species in a case of total deficiency of low and high molecular weight kininogens

Low and high molecular weight kininogens (LK and HK), containing 409 and 626 amino acids with masses of ~65 and 120120 kDa after glycosylation, respectively, are coded by a single gene mapped to the human chromosome 3 by alternative splicing of the transcribed mRNA. The NH2-termini Glu(1)-Thr(383) region, identical in LK and HK, contains bradykinin (BK) moieties Arg(363)-Arg(371). LK, HK and their kinin products Lys-BK and BK are involved in several biological processes. They are evolutionarily conserved and only 7 patients, all apparently normal, have been reported to lack them. In one of these patients (Williams'trait), a codon mutation (Arg(178) r stop) has been blamed for the absence of LK and HK. However, using Western blots with 2 monoclonal anti-HK antibodies, one that recognizes the region common to LK and HK and the other that recognizes only HK, I detected ~110-kDa bands in the plasma of this LK/HK-deficient patient vs ~120-kDa bands in normal human and ape plasmas. With polyclonal anti-Lys-BK antibody, which strongly detects BK eleaved at its COOH-terminus in purified HK, I detected ~110-kDa bands in the normal and the deficient plasmas. Western blots with a monoclonal anti-prekallikrein (PK) antibody showed that surface activation of PK and distribution of PK activation products, both dependent on HK, were similar in these plasmas. These findings suggest that a mutant gene yielded a kininogen-like species possibly involving aberrant mRNA splicing - structurally different from normal HK, but apparently with the capacity to carry out seemingly vital HK functions.

Deficiencia de proteína S / Protein S deficiency

Apresenta-se caso de Síndrome Hereditária de Hiper-coagulabilidade sanguínea causada por deficiência de proteína S. O diagnóstico foi sugerido pela anamnese e confirmado por dosagens quantitativas das proteínas S, C e antitrombina III. A paciente apresentava episódios trombo-embólicos recorrentes incluindo trombose venosa profunda, embolia pulmonar e trombose mesentérica. As dosagens plasmáticas demonstraram diminuiçäo da atividade de proteína S, corroborando hipótese de Síndrome de Hiper-coagulabilidade. Objetiva-se chamar a atençäo dos médicos em geral para os casos de trombose venosa profunda e embolia pulmonar recorrente, especialmente aqueles que envolvem membros de uma mesma família, que podem estar associadas aos estados de hiper-coagulabilidade sanguínea

Integraçäo psicoterápica e hematológica no atendimento de portadores de distúrbios hereditários da coagulaçäo / Psychotherapic and hematologic integration in the care to patients with hereditary coagulation disordres

Este trabalho tem como objetivo mostrar a integraçäo entre hematologistas e psicoterapeutas no atendimento a portadores de distúrbios hereditários da coagulaçäo. Os autores caracterizam hemofilia A, B e doença de von Willebrand como patologias que, devido às intercorrências hemorrágicas freqüentes, levam o paciente a desenvolver dificuldades em sua adaptaçäo ao ambiente e à sociedade e descrevem a sistemática de atendimento em grupo aos pacientes e seus familiares, por equipe multiprofissional. Relatam algumas vinhetas do atendimento, evidenciando aspectos clínicos, sociais e psicológicos que trazem repercussöes a pacientes e familiares. Observam, com o decorrer das reuniöes, uma nítida mudança no comportamento dos familiares, pacientes e mesmo equipe técnica frente à patologia. Demonstram que, inicialmente, os temas desenvolvidos säo restritos às intercorrências hemorrágicas e tratamento e que, com o passar do tempo, pode-se tratar da responsabilidade dos pacientes no convívio com a doença e buscar padroes menos regredidos de comportamento. Evidenciam, ainda, uma cultura informal sobre a doença, näo partilhada com os médicos. Este trabalho constitui-se no início da atençäo multiprofissional aos portadores de distúrbio de coagulaçäo em nosso meio.