2021 Volume 58 Issue 3 Pages 253-262
Congenital thrombocytopenia is a group of heterogeneous disorders caused by mutations in responsible genes that have indispensable roles in normal differentiation from hematopoietic stem cells to megakaryocytes and in platelet production. Differential diagnosis of congenital thrombocytopenia is clinically required for distinguishing it from immune thrombocytopenia and selecting appropriate therapeutic options. On the basis of recent advances made by our AMED research group, we developed systems for patient registration, protein assays of platelets, and a biobank. The number of responsible genes reached up to 56, and targeted sequencing and subsequent exome sequencing analysis are available in Japan. For making differential diagnosis and selecting appropriate therapeutic options, we report a diagnostic guide for congenital thrombocytopenia. This guide is composed of the disease outline, diagnostic flowchart according to platelet size, brief description of each disease, consultation system, list of responsible genes, and therapeutic and long-term follow-up options.
