Porphyria is a Disease in which the Body does not Produce Porphyrins

There are two types of hemochromatosis, primary and secondary. Primary hemochromatosis is a genetic disorder passed down through families. It occurs at birth. People with this condition absorb too much iron through their digestive tract. Iron builds up in the body, especially the liver. You are more likely to get this disease if someone else in your family has or had the condition. Secondary hemochromatosis is due to other blood-related disorders such as thalassemia or certain anemia’s. Sometimes it occurs in people with long-term alcoholism and other health conditions.

People may not know they have hemochromatosis since in the early stages they may not have any symptoms. In this stage, the only way the disorder can be detected is through routine blood tests and the doctor noticing elevated iron levels in the blood. Usually, the first and most common symptoms of hemochromatosis is joint pain and fatigue, but these are symptoms which occur in several other diseases and disorders, so the diagnosis is frequently held up or even overlooked. “Pain in the knuckles of the pointer and middle finger, collectively called ‘The Iron Fist,’ is the only sign or symptom specific to hemochromatosis. However, not everyone with HHC experiences the Iron Fist” (“WHAT IS HEMOCHROMATOSIS?” n.d.).

The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can lead to “liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders[, ...] cancer” (p. 13) and, in the end, death. Although it is more common in some communities than others, today the low-penetrance disease only manifests in 1 in 200 people.

Sharon Moalem discusses is hemochromatosis. Hemochromatosis is a disorder that disrupts iron metabolization, by absorbing excess iron instead of passing it through the body, causing iron to build up in the organs, especially the liver, heart and pancreas. The symptoms are joint pain, fatigue, and weakness. It was first described by Armand Trousseau in 1865, but is thought to have originated with the Vikings and spread throughout Northern and Western Europe. The genetic variant for hemochromatosis is very common among people of Western European descent, but only one in two hundred of those people have the disease with all of the assorted symptoms. Hemochromatosis can be diagnosed through blood and genetic tests, and it can be treated through the ancient practice of phlebotomy, or bloodletting. This lowers the amount of iron in the blood, and in the body, to safe levels. But although it is easily treatable, if left unchecked, hemochromatosis can lead to serious complications. As Dr. Moalem says, “Unchecked, hemochromatosis can lead to liver failure, heart failure, diabetes, arthritis, infertility, psychiatric disorders, and even cancer. Unchecked, hemochromatosis will lead to death.” Thus, before the days of genetic and blood testing, hemochromatosis was a very dangerous disease, and often caused death in middle age. It is here that Dr. Moalem raises the question: if hemochromatosis was so deadly, why was it passed down for so many generations? Unless it provided our ancestors with an advantage, such a damaging disease would not have remained in their gene

* Hepatorenal Syndrome: defined as a rapid deterioration in kidney function that manifests from an acute insult to the liver. Changes in blood flow due to decreased kidney function causes toxins to begin impairment of the kidneys since the liver cannot kill off the toxins before-hand. This condition is considered secondary to portal hypertension for this reason.

Hemochromatosis, also called iron overload, is a disease when the body absorbs too much iron from the food we eat and most often affects the liver, heart, pancreas, and skin. It is usually caused by genes in the body that mutate keeping them from working. Some signs and symptoms of this disease are weakness, joint pain, low libido, and/or if the disease has progressed to far diabetes or heart failure. Hemochromatosis is one of the more difficult diseases to diagnose because many symptoms are nonspecific and usually many people don’t show as many symptoms except elevated iron levels in their blood. Most will be treated with blood transfusions until the normal level of iron is reached. If diagnosed early the prognosis is excellent with possible checkups or phlebotomies.

Otherwise known as G6PD deficiency, people with an extreme case of this illness would experience hemolytic anemia, fever, and fatigue after eating fava beans or take drugs like primaquine. This is due to the fact that people with favism lack sufficient amount of the enzyme G6PD, which is important for protecting cells from chemical elements that would otherwise destroy the cells. The substances mentioned above act as the catalysts for the production of free radicals (un-paired electrons). As these un-paired electrons seek to pair with electrons in red blood cells with deficient amount of G6PD, it causes the cell membranes to burst. The loss of red blood cells when left untreated can cause the person to have kidney failure, heart failure, and death. As of now, there is no treatment for G6PG

Hemochromatosis is a deadly disease in which the body believes that it never has enough iron. The body, as a result is that iron is not filtered out through the intestines, it is always entering the body. This iron runs out of places to be stored, and is spread throughout the body. These iron stores eventually end up changing the body and causing damage to major organs and joints. Hemochromatosis can lead to cancer, heart failure, and a plethora of other problems.

The first disease Moalem discusses, hemochromatosis, is a hereditary disorder that he himself lives with. It causes excess iron buildup throughout the body, damaging “the joints, the major organs, and overall body chemistry” (p. 13). Hemochromatosis can cause conditions such as “liver failure, heart failure, diabetes, arthritis,

A 20-year old male presented to the hospital with: nausea; diarrhoea and fever. Upon examination he had abdominal pain and a tender liver. The patient admitted to eating wild mushrooms, of which he had collected himself, the afternoon before attending the hospital. Laboratory analysis at the time of admission revealed elevated serum ALT (665 U/L) and AST (880 U/L), increased total bilirubin (4.9mg/dL) and an increased prothrombin time (3.11 seconds). Laboratory tests were repeated six hours later and all levels, except AST, were elevated even further; with ALT and bilirubin doubling in concentration and the prothrombin time also doubling. Albumin concentration was also tested and presented normal at both times. The patient was administered a haemodialysis with N-acetylcysteine.

Hemochromatosis is when there is excess iron in the body. It is a genetic disorder that is passed down each generation and is inherited by the offspring. Iron overload directly affects the circulatory system but eventually the complications can affect the whole body and many major organs. In addition, hemochromatosis can show no symptoms but the body sometimes shows

Hemochromatosis, also known as iron overload. Iron in the body is an important component of hemoglobin, the substance in the blood that carries oxygen from the lungs to other parts of the body. Too much iron in the body leads to an overload that can damage organs like the pancreas, liver kidneys etc. During the 14th century, the Black Death or Bubonic plague was a bacterial disease caused by Yersinia pestis, an iron hungry bacteria. During the time, people with Hemochromatosis were “immortal” from the plague because the bacteria thrive on iron and there was none present because it was absorbed by the cells in the body of the host.

Porphyria, specifically Congenital Erythropoietic Porphyria, is a rare hereditary blood disorder. The likelihood that this disorder will be present is less than one in a million, yet more common in relatively isolated populations.

The compound produced by the process is known as Nitisinone, a drug used to treat hereditary tyrosinemia type 1. Hereditary tyrosinaemia (type I) is an inborn error of metabolism. Patients suffer from multi-organ symptoms and may develop severe liver failure at a very early age, or more progressively liver disease which leads to nodular cirrhosis and the development of primary hepatic carcinoma. Damage to the kidneys and blood forming organs may also occur. Death usually occurs before the age of 20, but single patients have reached higher ages. Some patients develop symptoms characteristic of acute porphyria with episodes of acute abdominal pain and a generalised paresis. The excretion of 5-aminolevulinic acid (a precursor of porphyrins) is

Haemoglobin is a protein molecule found in red blood cells (RBC). Its role in the body is to transport oxygen from the lungs to the body 's tissues and then returns carbon dioxide from the tissues back to the lungs. The transportation of oxygen is only possible when haemoglobin (Hb) within the RBC binds to oxygen. (Martini & Nath, 2006)