Amador GMT, Pérez VS, Estrada FJ, Ramos KM, García TS, Carrillo-Farga J

Language: Spanish
References: 0
Page: 185-202
PDF size: 583.83 Kb.

ABSTRACT

The group of disorders called collectively “hereditary elliptocytosis” are the result of several molecular defects in different proteins of the red cell membrane, therefore they do not correspond to an homogeneous entity, although all have in common the presence of elliptical red cells. Using morphologic, clinic and molecular criteria, the hereditary elliptocytosis can be divided in two groups: common hereditary elliptocytosis (CHE) and Southeast Asian ovalocytosis (SAO), being the former the most frequent. In almost all countries CHE is present in one of 2000-4000 individuals; in Mexico, the experience of the Institute of Hematopathology shows a similar frequence. SAO appears to be restricted to Southeast Asia or it is found in people with direct ancestors in this region. Interestingly, we have found several mexican mestizo families with typical SAO, who lack any known ancestors from Southeast Asia. Both variants of hereditary elliptocytosis are the result of a defective structure of the red cell membrane skeleton proteins or skeletal-associated integral membrane proteins. In this article, we review the morphologic features of these disorders trying to establish a correlation of morphology with the molecular defects.