Erythropoietic porphyria
Erythropoietic Porphyria (pronounced: eh-rih-throh-poy-EH-tik por-FEER-ee-uh) is a rare genetic disorder affecting the production of heme, a vital component of hemoglobin in red blood cells. The term 'Erythropoietic' is derived from the Greek words 'erythros' meaning red and 'poiesis' meaning to make, referring to the production of red blood cells. 'Porphyria' comes from the Greek word 'porphyra', meaning purple, as urine of affected individuals may turn purple upon exposure to light.
Overview
Erythropoietic Porphyria is a form of porphyria, a group of diseases that involve abnormalities in the chemical steps that lead to heme production. It is specifically classified as a type of congenital erythropoietic porphyria (CEP), also known as Günther's disease, which is the most severe form of porphyria.
Symptoms
The symptoms of Erythropoietic Porphyria can vary greatly among individuals. They may include extreme light sensitivity (photosensitivity), skin fragility, blistering, and scarring, often on the face and hands. Other symptoms may include red urine and anemia.
Causes
Erythropoietic Porphyria is caused by mutations in the UROS or GATA1 genes. These mutations lead to a deficiency of the enzyme uroporphyrinogen III synthase, which is critical in the heme production process.
Treatment
There is currently no cure for Erythropoietic Porphyria. Treatment is focused on managing symptoms and includes avoiding sunlight, blood transfusions, and in severe cases, bone marrow transplant.
See Also
External links
- Medical encyclopedia article on Erythropoietic porphyria
- Wikipedia's article - Erythropoietic porphyria
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