β-spectrin Promissao: A Translation Initiation Codon Mutation Of The β-spectrin Gene (atg → Gtg) Associated With Hereditary Spherocytosis And Spectrin Deficiency In A Brazilian Family [8]

[No abstract available]91136836

Red Cell Membrane Protein Abnormalities In Hereditary Spherocytosis In Brazil

We studied 14 kindred and nine unrelated patients from southeastern Brazil with the typical form of hereditary spherocytosis. Diagnosis was made on the basis of clinical features, presence of spherocytes on the peripheral blood smears and an abnormal osmotic fragility test. By densitometric tracing of SDS-PAGE stained by Coomassie blue, we detected isolated deficiency of spectrin in 39% of our patients, combined spectrin and ankyrin deficiency in 13%, and deficiency of band 3 in 13%. One of our patients presented ankyrin deficiency without spectrin reduction. Our data suggest that, despite ethnic differences among the Brazilian and European or North-American populations, these biochemical abnormalities in HS patients may be similar.88229529