Posted by: Cindy | 2009-07-09


is porphyria classified as a blood disorder,?

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Hi Cindy
It is actually more a genetic disorder - Heme is composed of porphyrin, a large circular molecule made from four rings linked together with an iron atom at its center. Heme is the oxygen-binding part of hemoglobin, giving red blood cells their color. It is also a component of several vital enzymes in the liver including the group known as cytochrome P450. This enzyme family is important in converting potentially harmful substances such as drugs to inactive products. Eight enzymes convert chemicals called porphyrins into heme. In porphyria, an inherited mutation in one of the genes involved in heme production can cause an enzyme deficiency, which can lead to porphyrins building up in your body. Although porphyrins are normal body chemicals, it's not normal for them to build up. Most of the porphyrias are inherited. Some forms of the disease come from inheriting a defective gene from one of your parents (autosomal dominant pattern). Other forms come from inheriting defective genes from both parents (autosomal recessive pattern). These gene defects cause one or more of the enzymes involved in the process of converting porphyrins to heme to be abnormal.
Dr Bets

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