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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 haemochromatosis occurs when abnormal red blood cells in the body are destroyed and iron is released. 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 liver failure.


Persons suffering from haemochromatosis tend to feel fatigue and lethargy. There might be joint pain or arthritis. Men might notice impotence and reduced sex drive. Other symptoms of haemochromatosis 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.


Hemochromatosis is diagnosed through blood tests and liver biopsy. Therapeutic venesection or phlebotomy is a process of regular bloodletting, similar to blood donation. Patients suffering from Haemochromatosis must limit the consumption of iron. Excess alcohol consumption must be avoided. Avoid iron supplements and Vitamin C, which aids absorption of iron.

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.

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Collection of Pages - Last revised Date: September 23, 2019