📂 Diseases
familial erythrocytosis 2 — Definition
Ailesel eritrositoz 2 / familial erythrocytosis 2
Familyic erythrocytosis 2 is a rare hereditary disease, which increases excessive production of red blood cell due to genetic mutations on the signal path of erythropoietin (EPO). This situation, showing autozomal dominant inheritance, is often caused by mutations in the EPO receptor (EPOR) gene. Symptoms can be seen in patients such as headaches, dizziness, vision disorders and increased risk of thrombosis. The diagnosis is based on family history with high hemoglobin and hematocycrit levels; flebotomi and low dose of aspirin is used in the treatment.
Frequently Asked Questions
❓ What is Ailesel eritrositoz 2?
Ailesel eritrositoz 2; familyic erythrocytosis 2 is a rare hereditary disease, which increases excessive production of red blood cell due to genetic mutations on the signal path of erythropoietin (EPO). This situation, showing autozomal dominant inheritance, is often caused by mutations in the EPO receptor (EPOR) gene. Symptoms can be seen in patients such as headaches, dizziness, vision disorders and increased risk of thrombosis. The diagnosis is based on family history with high hemoglobin and hematocycrit levels; flebotomi and low dose of aspirin is used in the treatment.
❓ What is familial erythrocytosis 2 in Turkish?
The Turkish equivalent of "familial erythrocytosis 2" is Ailesel eritrositoz 2.
❓ Which medical field is Ailesel eritrositoz 2 related to?
This term belongs to the Diseases category.