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Hemochromatosis

Haemochromatosis is characterized by excess iron in the body. Just like lack of iron can cause anemia, excessive levels of iron in the blood are toxic. The effects are damaging since the iron mineral starts building up in the tissue. In many cases, Hemochromatosis is caused due to an inherited abnormality that causes the body to increase absorption of iron from the intestine. This condition is called primary Hemochromatosis. Secondary Hemochromatosis occurs when abnormal red blood cells in the body are destroyed and iron is released.


Causes : Hereditary Hemochromatosis is an autosomal recessive condition. This Hemochromatosis which is known as iron overload, bronze diabetes, hereditary Hemochromatosis and familial Hemochromatosis. Hemochromatosis afflicts nearly 1.5 million people in the United States and it is one of the most common genetic disorders in the US. Approximately one in 9 persons have one abnormal Hemochromatosis gene which works out to 11% of the US population. Since all of us have 2 copies of each gene, these individuals have an abnormal HFE gene and a normal gene. Thus they are called as carriers. Between 1/200 and 1/400 individuals have two abnormal genes for Hemochromatosis and no normal gene. The culprit gene is on chromosome 6, known as HFE.

As it is an autosomal recessive condition, siblings of the Hemochromatosis patients are at 25% risk to be affected as well. But the chances of the person to develop symptoms depends on which gene mutation s/he has in addition to environmental factors. The 2 most common changes in the HFE gene are C282Y and H63D. To complicate things further, the age at which symptoms show up vary widely even within the same family.

Idiopathic Pulmonary Hemosiderosis (IPH), a disorder affecting largely children and young adults, is a similar disorder owing to abnormal accumulation of hemosiderin. Hemosiderin is a protein found in most tissues, but primarily in the liver. It is produced by digestion of hematin, an iron related substance.

Although it affects both sexes in equal proportion, women suffer later in their lives because of the blood loss in menstruation and child birth in their younger ages. This iron dose overload usually affects people in the age group of 30 - 60 years. It is essential to treat this condition lest it lead to heart failure or cirrhosis of the liver. 5% of cirrhosis cases are caused by hereditary Hemochromatosis.


In Hemochromatosis, as the excess iron is deposited in the liver, pancreas, heart, endocrine glands, skin, joints and intestinal lining, it may result in toxicity of the affected organs. Persons suffering from Hemochromatosis tend to feel fatigue and lethargy. There might be joint pain or arthritis. Men might notice impotence and reduced sex drive. Other symptoms of Hemochromatosis are loss of body hair and darkening of skin. Cirrhosis of the liver might occur due to scarring of liver. This is accompanied by abdominal pain, jaundice and enlargement of the liver and spleen. Haemochromatosis can lead to heart failure or abnormal heart rhythms. The patient may show symptoms similar to heart failure, diabetes or cirrhosis of the liver. Changes in the pigment of the skin may occur, like grayness or a tanned/yellow appearance. Idiopathic pulmonary hemosiderosis appears as paleness of the skin. At times, the patient may start spitting of blood from the lungs or bronchial tubes.


Diagnosis: Hemochromatosis is diagnosed through blood tests and liver biopsy. The usual diagnostic methods are genetic blood studies, blood studies of iron, Magnetic Resonance Imaging (MRI), and liver biopsy. Blood studies of transferrin iron saturation and ferritin (a protein that transports iron and liver enzymes) concentration are used to screen for iron overload. Genetic testing is a reliable technique of diagnosis of Hemochromatosis as this method became widely available. Diagnosis of idiopathic pulmonary hemosiderosis begins with blood tests and X-ray studies of the chest area.

Hemochromatosis Treatment: The first option of treatment is therapeutic venesection or phlebotomy ( a process of regular bloodletting, similar to blood donation). Patients may need to undergo these procedures one or two times a week for a year. The frequency of phlebotomy may be reduced subsequently based on the condition of iron build up. For cases of patients who cannot tolerate phlebotomy owing to other medical conditions can be treated with Desferal (Desferrioxamine). Patients suffering from Haemochromatosis must limit the consumption of iron. Some times chelating agents may be prescribed to control the absorption of iron. Excess alcohol consumption must be avoided. Avoid iron supplements and Vitamin C, which aids absorption of iron. Reduction in the intake of supplements containing iron and foods such as uncooked sea food may help manage this condition.


Prevention: Genetic testing might be the most helpful as variable severity has been noted in patients who have 2 C282Y genes compared to patients with 2 H63D genes or one of each. The best screening method may be iron and ferritin studies which are cost effective for the susceptible group of people. At the end of the day, Hemochromatisis is a common, easily and effectively treated condition. The complications arise in diagnosis as the symptoms mimic other medical conditions.


Ferritin Blood Test

The iron storage in the body is estimated by the levels of ferritin present in the blood. Serum ferritin is a protein that carries the iron in the blood. The determination of serum ferritin estimates the amount of iron present in the body. Ferritin is found in higher concentrations in spleen, liver and bone marrow where there is a production of blood cells. The amount of ferritin found in the blood is always lesser than these organs. The predominant concentration is often found in the spleen and bone marrow.


Ferritin estimation is an important diagnostic approach in identifying conditions such as anemia, infections and inflammation. The normal reference range of ferritin is 12 - 300 ng/ml in men and 12-150 ng/ml in women. It is recommended that any values below 60 indicate iron deficiency and requires treatment. Low ferritin levels can occur due to heavy menstrual bleeding, inadequate iron in the diet, gastrointestinal bleeding, colon cancer, hemorrhoids or even psoriasis. A person suffering from an underlying condition associated with anemia experiences symptoms such as dizziness, fatigue, headaches, loss of libido, abdominal pain and also joint pains. The ferritin levels are often high in conditions such as hemochromatosis, hemolytic anemia and sideroblastic anemia. Birth control pill and anti thyroid medicines can alter blood ferritin values. Those recovering from surgery or illness are also likely to have lower values of ferritin in the blood.


Although iron supplements are recommended for pregnant women and patients having low iron concentrations, increased levels of iron may often lead to toxicity. Ferritin is stored in the body especially in organs like liver, spleen and bone marrow to enable the balance of iron composition in the body. In iron deficiency anemia, the iron stored is used in the production of blood cells leading to depletion of ferritin levels in the organs.


Anemia

Anemia stands for 'without blood' in Greek; When the number of red blood cells (RBC) falls below normal, Anemia is a resultant condition. Hemoglobin is an important constituent of RBC. Hemoglobin usually occurs in the range of 12 and 18 g/dL (grams per deciliter of blood). If the hemoglobin levels show a decrease, anemic conditions set in. Consequently, the various organs and tissues of the body do not receive adequate oxygen on account of the diminished oxygen carrying capacity of the blood. This impairs their normal functioning. Usually women have smaller stores of iron than men. Besides, they also lose blood during menstruation making them primary targets for anemia.

Red Blood Cells

World Health Organization (WHO) defines anemia as a hemoglobin level lower than 13 g/dL in men and lower than 12 g/dL in women. It is essential to be familiar with the typical symptoms of anemia. Often anemia is misdiagnosed and left untreated. An anemic person is likely to feel extremely tired and weak. This is accompanied with dizziness and breathlessness. A person suffering from anemia tends to appear pale and experience feelings of depression. In some cases, anemia can lead to heart ailments too.

Causes of Anemia


  • Serious disease or infection such as hookworm infection, bleeding piles, esophageal var ices and peptic ulcers.
  • Hemorrhagic - Excessive blood loss due to surgery, menstruation or injury.
  • Genetic defects lead to sickle cell anemia, Thalassemia anemia and aplastic anemia.
  • Hemolytic - Excessive intravascular blood destruction where red blood cells are destroyed prematurely.

Types of Anemia

Iron deficiency Anemia - Nearly 20% adult women tend to suffer from this form of anemia. Loss of blood due to menstruation is not compensated with an iron-rich diet. Pregnancy and breast feeding can also deplete iron stores. Iron deficiency anemia is also noticed during growth spurts or internal bleeding.


Aplastic anemia - When the bone marrow does not produce sufficient quantities of blood cells, aplastic anemia is noticed. Childhood cancers such as leukemia are often responsible for this form of anemia. Other possible causes of aplastic anemia are radiation, cancer or antiseizure medications and chronic diseases such as thyroid or kidney malfunction. Treatment for aplastic anemia involves blood transfusions and bone marrow transplant. This is done to replace malfunctioning cells with healthy ones.


Vitamin deficiency anemia - Low levels of folic acid lead to faulty absorption of iron. Anemia caused due to folic acid deficiency is called Megaloblastic anemia. Pregnancy doubles the body requirements of folic acid and it is imperative that pregnant women take folic acid supplements. Good dietary sources of folate are fresh fruits, green leafy vegetables, cruciferous vegetables, liver and kidney, dairy products and whole grain cereals. Vegetables should be eaten raw or lightly cooked.Folic acid anemia is also a common problem faced by alcoholics. Vitamin B-12 deficiency can lead to a condition of Pernicious anemia. Diseases such as thyroid malfunction or diabetes mellitus can affect the body's ability to absorb vitamin B-12. This vitamin is vital in the production of hemoglobin.

Vitamin C Deficiency Anemia is a rare form of Anemia that is the result of small red cells owing to prolonged dietary deficiency of the Vitamin C.


Sideroblastic Anemia: In this anemia, the body has sufficient iron but it fails to incorporate it into hemoglobin.


Hemolytic Anemia results from high rate of destruction of Red Blood Cells (RBC) at a rate faster than the rate bone marrow can replenish them.


Thalassemia anemia - Thalassemia or Cooleys Disease is a hereditary disorder found predominantly in people of South East Asian, Greek and Italian racial groups. This form of anemia is seen in differing degrees as Thalassemia encompasses a group of related disorders that affect the human body in similar ways. The most common occurrences of Thalassemia are alpha and beta thalassemia. Thalassemia anemia is characterized by symptoms like jaundice, enlarged spleen, shortness of breath and facial bone deformities.


Diagnosing Anemia

A complete blood count test will test for hemoglobin levels and display an anemic condition. But often anemia is a symptom whose cause lies deeper. The cause and type of anemia will determine the treatment that is needed. A stool test will help in detecting occult blood. Hemoglobin electrophoresis is a blood test that helps identify abnormal hemoglobins. Diagnosing thalassemia or sickle cell anemia becomes possible with this test.

Treating Anemia

Deficiency can be treated with supplements of iron, Vitamin B-12 and Vitamin C. Partaking an iron-rich diet can be beneficial for those suffering from nutritional deficiency anemia. Seafood, nuts, whole grains and dried fruits such as raisins, prunes and apricots are rich in iron. Ensure adequate consumption of Vitamin C as it aids and stimulates iron absorption. Try and combine citrus foods with iron-rich foods - add tomatoes to a turkey sandwich or chopped strawberries with iron-fortified breakfast cereals.

Tags: #Hemochromatosis #Ferritin Blood Test #Anemia
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Collection of Pages - Last revised Date: July 8, 2020