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Revista Médica Electrónica
versión On-line ISSN 1684-1824
Resumen
RUIZ HERNANDEZ, hosvany; CANO SOLER, Antonis; MENDEZ ALONSO, Antonio Yosvany y GARCIA GUELL, Aída. Leukemic transformation of the Marchiafava Micheli clone. Inform of a case. Rev. Med. Electrón. [online]. 2013, vol.35, n.3, pp. 296-301. ISSN 1684-1824.
The nocturnal paroxysmal hemoglobinuria, also known as Marchiafava-Micheli syndrome, is a clonal and acquired disease, caused by a somatic mutation of the PIG-A gene located in the X chromosome and modified a protein involved in the glicosilfosfatidilinositol synthesis that serves as anchorage for many proteins of the cell membrane; it is the only hemolytic anemia acquired by defect of the erythrocyte membrane. It is characterized by a chronic intravascular hemolytic anemia, hemoglobinuria, hyper coagulation, cytopenia due to the marrow failure, thrombosis and rarely leukemic transformation. Having a patient with these characteristics we decided to present the case.
Palabras clave : paroxysmal hemoglobinuria; clinic; mutation.