porphyria
Savannah Collier
Biology Honors
Mrs. Prescott
26 February 2014
Porphyria
Porphyria (also known as Hematoporphyria or porphyrin disorder) is a rare heredity disorder in which the blood pigment hemoglobin is abnormally metabolized, including problems with how your body makes a substance called Heme. Heme is found throughout your body, but especially in your blood and bone marrow. It’s a component of several iron-containing proteins called Hemoproteins, including Hemoglobin, (protein that carries oxygen to the blood). Some types of Porphyria are inherited in an autosomal dominant pattern which means one copy of the gene in each cell is mutated, or the main cause of Porphyria is from the production of Heme. The production of Heme takes place in the liver, bone marrow and blood stream. It involves eight different enzymes, and a shortage of any of these enzymes will cause a buildup in your system. Most types of Porphyria are inherited and the risks of developing a Porphyria disease and passing it on is pretty much determined by what the specific signs and symptoms are depending on which of your genes is abnormal. Two main types of Porphyria affect two totally different things. One affects the skin, and the other affects the nervous system. People with the skin type called, Porphyria Cutanea Tarda (PCT) is the most popular of Porphyria’s. People with this type of disease can easily develop blisters, itching and swelling of their skin once it is exposed to any sunlight. The nervous system type called, Acute Porphyria is very, very rare. Symptoms include Chest pains, pains in the abdomens, legs or arms (limbs) or the back. Muscle numbness or tension can occur; tingling, paralysis, or cramping; vomiting, constipation and some personality changes and ways of viewing and thinking may change along with that. These symptoms come and go, somewhat like they are on a schedule. Porphyria can be diagnosed through blood, urine and stool tests. Especially in the near
Biology Honors
Mrs. Prescott
26 February 2014
Porphyria
Porphyria (also known as Hematoporphyria or porphyrin disorder) is a rare heredity disorder in which the blood pigment hemoglobin is abnormally metabolized, including problems with how your body makes a substance called Heme. Heme is found throughout your body, but especially in your blood and bone marrow. It’s a component of several iron-containing proteins called Hemoproteins, including Hemoglobin, (protein that carries oxygen to the blood). Some types of Porphyria are inherited in an autosomal dominant pattern which means one copy of the gene in each cell is mutated, or the main cause of Porphyria is from the production of Heme. The production of Heme takes place in the liver, bone marrow and blood stream. It involves eight different enzymes, and a shortage of any of these enzymes will cause a buildup in your system. Most types of Porphyria are inherited and the risks of developing a Porphyria disease and passing it on is pretty much determined by what the specific signs and symptoms are depending on which of your genes is abnormal. Two main types of Porphyria affect two totally different things. One affects the skin, and the other affects the nervous system. People with the skin type called, Porphyria Cutanea Tarda (PCT) is the most popular of Porphyria’s. People with this type of disease can easily develop blisters, itching and swelling of their skin once it is exposed to any sunlight. The nervous system type called, Acute Porphyria is very, very rare. Symptoms include Chest pains, pains in the abdomens, legs or arms (limbs) or the back. Muscle numbness or tension can occur; tingling, paralysis, or cramping; vomiting, constipation and some personality changes and ways of viewing and thinking may change along with that. These symptoms come and go, somewhat like they are on a schedule. Porphyria can be diagnosed through blood, urine and stool tests. Especially in the near