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.
ABSTRACT
The practice operation is an important method of clinical pediatric teaching during internship.We should fully consider the application occasions and select the most appropriate teaching cases when using this method on the clinical application teaching.The preparation before the intern should be emphasized because it is one of keys for students to learn much in the application.In order to correctly evaluate the effects of practice operation,we must focus on testing the working ability of students and standardizing the examination.