ABSTRACT Introduction: The management of adult (≥18 years) immune thrombocytopenia patients relies on platelet count, the risk of bleeding and presence of bleeding. Objective: Confirming the diagnosis of immune thrombocytopenia and the start of therapy, our hematology service, a referral center, favors the establishment of this algorithm to treat those patients. Results: Presentation, recently diagnosed or recurrence - group 1: life-threatening bleeding: high-dose intravenous immunoglobulins with methylprednisolone or dexamethasone. Hospitalization and platelet transfusion are considered. Group 2: Platelets <30 × 109/L with bleeding or risk factor for bleeding, or platelets <20 × 109/L: prednisone or dexamethasone. No response, platelets <20 × 109/L: replace corticoid or increase doses. If platelets continue <20 × 109/L: immunization and splenectomy. Investigation of Helicobacter pylori, if positive: treatment for H. pylori. Chronic immune thrombocytopenia with platelets <20 × 109/L we propose two new groups (A and B): Group A: <65 years, no or low surgical risk, patient declines maintenance therapy or patient intends to get pregnant: immunization and splenectomy. Group B: failure of splenectomy (refractory) or no splenectomy indication or history of exposure to malaria or babesiosis and no response to corticoids or corticoid dependence: choose thrombopoietin receptor agonists: eltrombopag or romiplostim. Patient at high risk for arterial or venous thrombosis: recommend rituximab. After rituximab or thrombopoietin receptor agonists, if platelets continue <20 × 109/L: indicate immunosuppressants (azathioprine or cyclophosphamide), dapsone or mycophenolate mofetil or vinca alkaloids. The goals of treatment for chronic or refractory immune thrombocytopenia are to keep platelets >20 × 109/L and stop bleeding.

No presente trabalho abordam-se vários aspectos relacionados à natureza molecular da anemia falciforme (AF), desordem hematológica de caráter hereditário. A descoberta do polimorfismo do DNA no grupamento do gene betaS, originando diferentes haplótipos da doença, permitiu ampliar o conhecimento em torno da heterogeneidade clínica observada nos pacientes falcêmicos nas mais diversas regiões do mundo. Analisaram-se os diferentes haplótipos e seus parâmetros hematológicos, presentes em um grupo de 22 pacientes naturais e procedentes do estado do Ceará. A distribuição das freqüências dos haplótipos encontrados foi de 55,9% para Benin; 41,2% para República Centro-Africana (CAR); e de 2,9% para o haplótipo Senegal. Esses dados, em comparação com os demais estudos realizados no Brasil, mostram associação entre os seus valores para um alfa de 5% (p < 0,05). Os resultados obtidos possibilitam um entendimento mais completo da fisiopatologia desta doença e da sua complexidade clínica em nosso meio, bem como permitem um conhecimento mais amplo da AF em nosso país.

The present work deals with numerous aspects related to the molecular nature of sickle cell anemia. The discovery of the DNA polymorphism in the betas-globin gene cluster, gave origin to different haplotypes of the disease, making possible to enlarge the knowledge about the clinical heterogenity observed on the patients with sickle cell disease, in the various regions of the world. The different haplotypes and its hematological parameters were analysed in a group of 22 patients born in the State of Ceará, northeast of Brazil. The distribution found in the haplotypes frequency was of 55.9% for the Benin, of 41.2% for the CAR, and of 2.9% for Senegal haplotype. The data, compared to the others works done in Brazil, show relations among their values to alpha of 5% (p < 0,05). The results make possible a full understanding of the pathophisiology of the illness and of its clinical complexity in our State, as well as it allows a better knowledge of the sickle cell disease in our country.

No presente artigo abordaram-se vários aspectos relacionados à natureza molecular da anemia falciforme, desordem hematológica de caráter hereditário que acomete expressivo número de indivíduos em várias regiões do mundo. As pesquisas realizadas em torno desta patologia da hemácia, ao longo de quase um século, a partir de 1910, cooperaram para a criação de um novo e importante segmento da ciência, denominado biologia molecular. A descoberta dos polimorfismos da mutação (GAT->GTG) no gene que codifica a cadeia beta da hemoglobina, originando diferentes haplótipos da doença, permitiu um melhor e mais amplo conhecimento em torno da heterogeneidade clínica nos pacientes falcêmicos. Analisando a hemoglobina na sua estrutura normal e mutante, sua produção e evolução, pode-se ter um entendimento mais completo da fisiopatologia desta doença e da sua complexidade clínica.

The present article dealt with various aspects related to molecular nature of sickle cell disease (SCD), a heritable hematology disorder that attacks a great number of people in different regions of the world. Researches done on red cell patology, in approximately half a century, starting since 1910, cooperated to gave origin a new branch of science called molecular biology. The discovery of mutation polymorphism (GAT -> GTC) in the gene that codifies beta globin chain, give origin to different illness haplotypes, permitted a better and great knowledge about the clinic heterogeneity of the patients. Analysing hemoglobin in its normal and mutation structure as well as in its productions and evolution, one can have a complete understanding of the illness phisiopathology and its clinical complexity.