Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years.
- Author:
Min-Hui ZENG
1
;
Xiang-Ling HE
1
;
Xin TIAN
1
;
Yu-Hui HUANG
Author Information
1. Department of Pediatric Hematologic Oncology, Hunan Provincial People's Hospital/Children's Medical Center of First Affiliated Hospital of Hunan Normal University, Changsha 410005, China.
- Publication Type:Journal Article
- MeSH:
ADAM Proteins/genetics*;
ADAMTS13 Protein;
Anemia, Hemolytic;
Autoantibodies;
Child;
Child, Preschool;
Humans;
Infant, Newborn;
Male;
Mutation;
Purpura, Thrombotic Thrombocytopenic
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(5):524-529
- CountryChina
- Language:Chinese
-
Abstract:
A boy, aged 3 years and 8 months, had recurrent thrombocytopenia with hemolytic anemia for more than 3 years. The physical examination showed no enlargement of the liver, spleen, and lymph nodes or finger deformities. Laboratory results showed a negative result of the direct antiglobulin test, normal coagulation function, and increases in bilirubin, lactate dehydrogenase and reticulocytes. The results of von Willebrand factor-cleaving protease ADAMTS13 activity assay showed extreme deficiency, and antibody assay showed negative ADAMTS13 inhibitory autoantibodies. Next-generation sequence showed compound heterozygous mutation in the
