Porphyria

What is Porphyria?

Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs,heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).

How can people inheritate Porphyria?

People can show some types of porphyria by an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. Another way people caan inhertate porphyra is that they can inheritate in an autosomal recessive pattern which means both copies of the gene in each cell have mutations. Most of the parents of an individua with an autosoal recessive conditions each carry on

What does Porphyria do?

The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins precursors first build up in the body. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen. The other types of porphyrias are considered hepatic porphyrias. In erythropoietic porphyrias, these compounds originate in the bone marrow. The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.

Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.

Any Treatment For Porphyria?

To date this is no cure for any kind of Porphyria. Treatment and prevention depends on the type of Porphyria. Preventive measures , which include avoidence of certain drugs and alcohol in the hepatic porphyrias and sun exposure.