Thrombocytopenia is an abnormal decrease of the number of platelets in the peripheral blood (less than 1010/L with direct platelet count). Thrombocytopenia can be inherited or acquired. The cause of thrombocytopenia can be divided into three reasons: low ability to produce platelets by bone marrow, hyperactivity of peripheral platelet utilization and destruction, abnormal distribution of platelets in organs of the body. The disease is usually characterized by subcutaneous and mucosal bleeding, such as ecchymosis of the skin, purpura, oral-nasal cavity and gingival bleeding. In severe cases, it is accompanied by gastrointestinal bleeding. Long-term development may lead to anemia.
GATA1, ANKRD26, MYH9 and ETV6 genes have been reported to be related to hereditary thrombocytopenia. GATA1 is located on the X chromosome. On one hand, GATA1 gene can activate the expression of erythrocyte-specific genes such as β- and γ-globin; on the other hand, it can inhibit cell cycle-associated Cdk6, cell proliferation-related Myc and other genes that are not conducive to erythrocyte development and differentiation. During the development of erythroid progenitor cells, GATA1 also has the functions of anti-apoptosis, inhibiting cell proliferation and promoting development & maturation. Mutations of GATA1 gene can lead to X-linked thrombocytopenia. Most of the proteins encoded by ANKRD26 are expressed in tumor cells, and mutations in the gene are associated with thrombocytopenia 2 (THC2). The MYH9 gene encodes non-myosin heavy chain 9, which is involved in cytoskeleton function and cell morphology maintenance. Mutations of MYH9 cause a variety of diseases which are collectively known as MYH9 related diseases (MYH9-RD). MYH9-RD is the most common form of hereditary thrombocytopenia. The ETV6 gene is a tumor suppressor gene that plays an important role in the development and maintenance of hematopoietic and vascular networks. Mutations in the ETV6 gene can affect DNA binding, alter subcellular localization and impair hematopoiesis.
CD-Genomic offers a custom thrombocytopenia panel to help you analyze the SNP, CNV and InDels of thrombocytopenia-related genes. You can choose the genes of interest to detect. Amplicon sequencing technology based on NGS is used to detect genetic variation efficiently, quickly and accurately.
For more information about the Custom Thrombocytopenia Panel or need other amplification requirements, please contact us.