Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 912-916, 2018.
Article
Dans Chinois
| WPRIM
| ID: wpr-1011887
ABSTRACT
Objective:
To investigate the relationship between the erythrocyte membrane protein gene mutations and the clinical severity of hereditary spherocytosis (HS).Methods:
Targeted sequencings were performed on 25 HS patients, correlation between HS mutations and patients' clinical characteristics were evaluated.Results:
A total of 25 HS patients were enrolled, including 13 males and 12 females with median age of 20 (4-55) years, including 9 compensatory hemolysis patients, 9 patients with mild anemia, 3 patients with moderate anemia and 4 patients with severe anemia. Of them, 18 patients (72%) harbored HS-related mutations, including ANK1 mutation in 6 cases, SLC4A1 mutation in 6 cases, SPTB mutation in 5 cases and 1 case with EPB41 mutation. Seven patients (28%) didn't carry common HS mutations. SPTB and SLC4A1 mutations mainly affected male patients. There was no significant difference between the age of diagnosis (P=0.130) and HGB level (P=0.585) in patients with HS mutation and those without mutation, however, the EMA binding fluorescence intensity (P=0.015), AGLT50 (P=0.032) and EOF minimal hemolytic concentration (P=0.027) were significantly different in these two groups of HS patients.Conclusion:
To screen erythrocyte membrane protein coding gene mutations could favor the diagnosis of HS, and patients without mutations have mild clinical phenotype.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Sphérocytose héréditaire
/
Membrane érythrocytaire
/
Hémolyse
/
Mutation
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2018
Type:
Article
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