Hereditary polycythemia caused by mutation of ANK1 gene:a case report

VernacularTitle:ANK1基因突变致遗传性球型红细胞增多症1例报告
Author: Dan ZHANG ; Wuqing WAN
Keywords: hereditary spherical erythrocytosis; ANK1 gene; ankyrin; spectrin
From: Journal of Clinical Pediatrics 2017;35(9):691-693
CountryChina
Language:Chinese
Abstract: 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.