Hematoporphyria

Hematoporphyria is a rare disease that causes an abnormal accumulation of porphyrins in the blood, resulting in characteristic symptoms and signs. This disease is a genetic defect that is inherited from parents to child. Hematoporphyritic disease is associated with impaired metabolism of porphyrin, a substance

Hemato- (from the Greek "haima" - blood) Porphyria (porphyria) is a hereditary disease associated with a violation of porphyrin metabolism, accompanied by the deposition of red pigment in various organs, leading to functional disorders and the development of malformations of the affected organs.

The genetics of the disease, which is characterized by the frequent occurrence of skin rashes, photosensitivity, liver cirrhosis and retinitis pigmentosa, is associated with heredity. For individuals with mutations in genes affecting heme synthesis or metabolism (GFE); GATA1/GPM-II; GC/CLOCK; ERalpha; HSP90, do not have dark skin and their relatives are not at risk of developing this disease. The disease occurs with a frequency of 1:20,000

Hematoporphyria is a rare genetic disease that causes a disruption in the production of hemoglobin, the main protein in the blood responsible for transporting oxygen and carbon dioxide throughout the body. Normally, hemoglobin contains heme, an iron-containing molecule that absorbs light and gives blood its red color.

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