EXPRESSION OF SPECTRIN ALPHA-I 65 HEREDITARY ELLIPTOCYTOSIS IN PATIENTS FROM BRAZIL/

We report the clinical and laboratory findings in three unrelated fami lies from southeastern Brazil with Sp alpha I/65 hereditary elliptocyt osis (HE), including one homozygote and a patient presenting an elonga ted beta-spectrin. In family 1, three patients presented the allele al pha-Lely in trans to the elliptocytogenic allele. In these three patie nts the blood smear showed pronounced elliptocytosis, poikilocytosis a nd a few small red cell fragments instead of the mild elliptocytosis o bserved in their father, who did not present the polymorphism. In fami ly 2 we describe one homozygote, with consanguineous parents presentin g with anaemia. splenomegaly, severe poikilocytosis and elliptocytosis , budding, microspherocytes and numerous fragments in the blood smear. In family 3 we found an elongated beta Sp in a patient with Sp alpha( I/65). The cause of the HE was the Sp alpha(I/65) since the elongated beta Sp was not found in his brother, who also presented with HE and S p alpha(I/65). Apparently the abnormal beta Sp did not aggravate the H E, because both individuals had the same clinical and laboratory findi ngs. However, the propositus presented a few more elliptocytes and poi kilocytes than his brother, probably because the elongated beta-spectr in may have disturbed the spectrin self-association. In fact, in the p ropositus an abnormal band was observed in the nondenaturing gels, jus t above the Sp dimer, probably as a result of the association of the a bnormal beta Sp with the normal spectrin chains. In the family studied here, both brothers presented the allele alpha Lely, but, as their mo ther was dead, it was not possible to determine the polymorphism trans mission. However, the high number of poikilocytes observed in the bloo d smear of both cases suggests an association in trans with the Sp alp ha(I/65). Thus, taken together, the data in this report indicate that HE secondary to Sp alpha(I/65) abnormality is frequent in Brazil, and in one case it was associated with an apparently novel abnormal large beta-spectrin.