1. Articles on hematology

Hematology

During the past years, CENTOGENE has identified genetic variants associated with hematology diseases in more than hundreds of different genes. We can help diagnose a hematological disorder before symptoms appear, ensuring selection of the most appropriate treatment and genetic advice at the earliest possible opportunity.

Articles on hematology

  • Thrombocytopenia

    Thrombocytopenia is a disorder of haematopoetic cells with predominant defects of platelets and it is defined as having a platelet count of less than 150,000 in mL of circulating blood, while the normal number of platelets ranges between 150,000 and 450,000 cells per mL of blood. Platelets are…

  • Spherocytosis

    Hereditary spherocytosis is a rare inherited disorder characterized by haemolytic anaemia resulting from red blood cell membrane protein anomalies. Hereditary spherocytosis is the most common inherited anemia in individuals of European ancestry, with a prevalence of 1-5 in 10,000 or higher when the…

  • Pheochromocytoma

    Pheochromocytomas (PCC) and paragangliomas (PGL) are rare catecholamine-secreting tumors that arise from the chromaffin cells of the adrenal medulla and/or from extra-adrenal sympathetic and parasympathetic paraganglia. Approximately 30% of all pheochromocytomas/paragangliomas (PGL/PCC) occur as a…

  • Afibrinogenemia

    Congenital afibrinogenemia is a rare inherited disease resulting from a defect in fibrinogen and characterized by uncontrolled bleeding. The most common manifestations of afibrinogenemia include umbilical cord bleeding, nose-bleeds (epistaxis), hemarthrosis and others. Uncontrolled bleeding in…

  • Fanconi anemia

    Fanconi Anemia (FA) is a rare inherited chromosome breakage syndrome characterized by physical abnormalities, bone marrow failure, and an increased risk of development of various malignancies. FA is the most common genetic cause of aplastic anemia and is one of the most common genetic causes of…