Genetic testing can be used by clinicians to look for changes in your DNA that could cause a genetic disorder such as porphyria. Genetics of porphyria Porphyria is a group of distinct diseases, each with a different genetic mutation. Each type of porphyria is related to a given error…
Doctors can use various diagnostic tests to determine whether a patient’s symptoms are caused by porphyria or another disorder. Here is some information about the most common tests and how test results can help diagnose porphyria. What is porphyria? Porphyria is a group of eight different disorders all related to…
While most cases of porphyria manifest later in life, the disease sometimes affects infants and children. Following is information about the types of porphyria in children, how doctors diagnose them, and ways they can be treated. What is porphyria? Porphyria is a group of related genetic disorders that involve…
If you have porphyria, the thought of potentially passing the disease on to your children can be stressful. There are options to limit the risks, however, and help is available for family planning. How do children inherit porphyria? Mutations in different genes may cause porphyria. Depending on the gene,…
Everyone needs to take some form of medication at some point. People with porphyria, however, need to be extra careful about which medications they take. Porphyria is a group of rare genetic disorders that lead to problems with the synthesis of a protein called heme, which is an…
Porphyria is the name given a group of rare genetic disorders that result in a buildup of porphyrins and a lack of heme, a protein necessary for the production of hemoglobin. Hemoglobin is the molecule in red blood cells that carries oxygen throughout the body. Anesthesia…
Bacterial infections can happen to anyone. However, when they happen to someone with porphyria physicians have to take special considerations before prescribing antibiotics. What is porphyria? Porphyria is a group of genetic disorders that are all related to the production of heme. Heme is a key component in…
A diagnosis for yourself or a loved one of a rare disease such as porphyria can make you feel isolated, overwhelmed, and even depressed. When a disease is so rare, it can feel like you are the only one who knows what you are going through. However, there are…
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