[Hereditary elliptocytosis caused by a spectrin deficiency (Sp alpha I/46). 1st patient described in Cuba].

Abstract

We report biochemical studies of membrane proteins performed in a patient with hereditary elliptocytosis (HE). The presence of 90% of elliptocytes on wet smears of glutaraldehyde-fixed cells, the increased red cell thermal sensitivity, the normal erythrocyte membrane electrophoresis, the increased spectrin dimer in the 4 degrees C extract (35%) and the 46 Kd peptide present in electrophoresis after limited tryptic digestion of spectrin, allows us to classify this disorder as type I HE. The patient has common HE with compensated mild hemolysis. This is the first case of HE with alpha chain molecular variant of spectrin found in a Cuban population.

• Authors: M Estrada del Cueto, M García Meneses, G Pérez Díez de los Ríos, M Lagarde Ampudia
• Journal: Sangre (Sangre (Barc)) Vol. 37 Issue 6 Pg. 461-3 (Dec 1992) ISSN: 0036-4355 [Print] Spain
• Vernacular Title: Eliptocitosis hereditaria por defecto de espectrina (Sp alpha I/46). Primer paciente descrito en Cuba.
• PMID: 1293798 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Spectrin

Topics

• Blood Protein Electrophoresis
• Cuba
• Erythrocyte Membrane (chemistry)
• Female
• Humans
• Middle Aged
• Spectrin (deficiency, genetics)
• Spherocytosis, Hereditary (genetics)