[Hereditary elliptocytosis caused by a spectrin deficiency (Sp alpha I/46). 1st patient described in Cuba]. / Eliptocitosis hereditaria por defecto de espectrina (Sp alpha I/46). Primer paciente descrito en Cuba.
Sangre (Barc)
; 37(6): 461-3, 1992 Dec.
Article
em Es
| MEDLINE
| ID: mdl-1293798
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esferocitose Hereditária
/
Espectrina
Limite:
Female
/
Humans
/
Middle aged
País/Região como assunto:
Caribe
/
Cuba
Idioma:
Es
Revista:
Sangre (Barc)
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
Cuba
País de publicação:
Espanha