1. Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis
Xiujuan SUN ; Haiyan LI ; Dapeng LI ; Yongze LIU ; Jiayuan ZHANG ; Yanke YIN ; Minghuan SU ; Hong PAN ; Qiuling LI ; Bo HU ; Hong LIU ; Jun SHI
Chinese Journal of Hematology 2018;39(11):912-916
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 (
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