[Hereditary elliptocytosis caused by a spectrin deficiency (Sp alpha I/46). 1st patient described in Cuba].
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.
Estrada del Cueto
M
M
Instituto de Hematología e Inmunología, Hospital Clínico Quirúrgico Joaquín Albarrán Ciudad de La Habana, Cuba.
García Meneses
M
M
Pérez Díez de los Ríos
G
G
Lagarde Ampudia
M
M
D001797:Blood Protein Electrophoresis; D003462:Cuba; D004910:Erythrocyte Membrane / Q000737:chemistry; D005260:Female; D006801:Humans; D008875:Middle Aged; D013049:Spectrin / Q000172:deficiency* / Q000235:genetics; D013103:Spherocytosis, Hereditary / Q000235:genetics*
D013049:Spectrin
Eliptocitosis hereditaria por defecto de espectrina (Sp alpha I/46). Primer paciente descrito en Cuba.