Ruiz HI, Cano SA, Méndez AAY, García GA

Language: Spanish
References: 9
Page: 294-299
PDF size: 33.67 Kb.

ABSTRACT

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.

REFERENCES

1. Lee GR, Foerster J, Lukens JN, Paraskevar F, Greer JP, Rodgers GM. Wintrobe Clinical Hematology. British J Haematology. 1999;105(2):572.

2. Góngora-Biachi RA, González-Martínez P. Hemoglobinuria paroxística nocturna: apuntaciones sobre su historia. Rev Biomed. 1999;10:129-36. Disponible en: http://www.medigraphic.com/pdfs/revbio/bio-1999/bio992g.pdf

3. Kawahara K, Witherspoon RP, Storb R. Marrow transplantation for paroxysmal nocturnal hemoglobinuria. Am J Hematol. 1992;39(4):283-8. Citado en PubMed; PMID: 1553957.

4. Farreras, Rozman. Medicina Interna. 13a ed. La Habana: Editorial Ciencias Médicas; 2011.

5. Manual Merck. 11a ed. Madrid: Elsevier; 2007.

6. Harrison T L. Manual de Medicina. 16a ed. Madrid: Ed. Mc Graw- Hill; 2005.

7. Cruz M. Tratado de Pediatría. 7a ed. La Habana: Editorial Ciencias Médicas;

8. Matarama Peñate M. Medicina Interna. Diagnóstico y tratamiento. La Habana: Editorial Ciencias Médicas; 2005.

9. Aguilar Pacín N. Manual de terapéutica de Medicina Interna. La Habana: Editorial Ciencias Médicas; 2008.