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

  • 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…

  • A race against the clock - Diagnosing genetic conditions in newborns and children

    Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.