Revista Cubana de Hematología, Inmunología y Hemoterapia
versión On-line ISSN 1561-2996
ESTRADA DEL CUETO, Marianela et al. Hematologic, biochemical and clinical study of patients and relatives presenting with inheritable spherocytosis. Rev Cubana Hematol Inmunol Hemoter [online]. 2009, vol.25, n.3, pp. 0-0. ISSN 1561-2996.
A hematologic, biochemical and clinical study was conducted in 6 patients diagnosed with inheritable spherocytosis (IS) and its relatives (40). There were 40 family carriers of this disease. In 4 family, the inheritance pattern was autosomal dominant, and in two of them it was impossible its determination. The 19 cases were classified in: 6 (31,6%) asymptomatic carriers,2 (10,5%) with light-inheritable spherocytosis, 9 (47,4%) con the typical presentation, and 2 (10,5%) with the severe presentation. Ten (52,6%) had spectrine defect , from them, 6 (31,5%) with another associated alteration. In 8 (42,1%) it was impossible to determine the biochemical defect. There was not relation between biochemical alteration and the clinical picture of this disease. Hematologic, biochemical and clinical expression was very heterogeneous among the different families and among the members affected of each. The more frequent biochemical alteration was the spectrine deficiency. Our results are similar to reported by other researchers.
Palabras llave : Inheritable spherocytosis; hemolytic anemia; erythrocyte membrane proteins.