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Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics ; (12): 524-529, 2021.
Article in Chinese | WPRIM | ID: wpr-879888
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
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Purpura, Thrombotic Thrombocytopenic / Autoantibodies / ADAM Proteins / ADAMTS13 Protein / Anemia, Hemolytic / Mutation Limits: Child / Child, preschool / Humans / Male / Infant, Newborn Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Purpura, Thrombotic Thrombocytopenic / Autoantibodies / ADAM Proteins / ADAMTS13 Protein / Anemia, Hemolytic / Mutation Limits: Child / Child, preschool / Humans / Male / Infant, Newborn Language: Chinese Journal: Chinese Journal of Contemporary Pediatrics Year: 2021 Type: Article