Objective To explore the genetic characteristics, diagnosis, and treatment of hereditary spherical polycythemia (HS). Methods The clinical data of one case of HS was analyzed retrospectively, and related literatures were reviewed. Results The 5-year-old girl presented hemolytic anemia from 6 months old. Incubation of fragility tests was positive. Blood smears and red cell electron microscopy showed spherical red blood cells. DNA sequencing showed alterations in heterozygosity of stopgain SNV. The girl was diagnosed was HS, and was scheduled to undergo splenectomy at 6 years old. Conclusions HS is an autosomal dominant genetic disease, mainly manifested as anemia, hemolytic anemia, and splenomegaly. The early diagnosis depends on genetic testing.%目的 探讨遗传性球型红细胞增多症(HS)的遗传学特征和诊治.方法 回顾分析1例确诊HS患儿的临床资料,复习相关文献资料.结果 5岁女性患儿,生后6个月始有溶血性贫血;孵育脆性试验阳性,血涂片及红细胞电镜见球型红细胞;DNA测序示杂合性stopgain SNV改变,确诊HS,拟于6岁后行脾切除术.结论 HS为常染色体显性遗传为主的遗传病,主要表现为贫血、溶血、脾大等,早期诊治有赖于基因检测.
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