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Assignment: 01

APPLIED NUTRITION

Date: 08 July 2011

Can Anaemia be hereditary?


There are many reasons people develop anemia. Sometimes people become anemic if they have a chronic condition, such as cancer or kidney disease. For these patients, treating anemia is part of the overall care of their condition. Other times, anemia can be caused by a hereditary condition that occurs because of small variations in a patients genes. Genes are located in every cell and are instructions that cells follow to complete different processes that take place in the human body. Each person receives a copy of genes from their parents and sometimes variations or flaws in the genes can be passed along as well. In this case, some very specific flaws that are inherited from parents can lead to anemia.

What is anaemia?
Anaemia is a condition which occurs when you have an abnormally low amount of red blood cells. Red blood cells contain haemoglobin. The job of haemoglobin is to carry oxygen around the body. When red blood cells and therefore haemoglobin are low the blood fails to supply the body's tissues with sufficient amounts of oxygen. As your lungs and heart will then have to work harder to get oxygen into the blood, symptoms of anaemia, such as difficulty in breathing will begin to develop. Anaemia mainly affects women during pregnancy or women who suffer with heavy periods.

Causes of anaemia
There is not usually one cause of anaemia; however, the following are reasons why anaemia may develop:

Heavy periods. Diet low in iron. Internal bleeding( an ulcer or a tumour) Diet low in vitamin B12 or folic acid. Blood diseases such as leukaemia. Infections, such as malaria.

Types of anaemia
The main types of anaemia are caused by shortages of iron, vitamin B12 and folic acid, all of which are needed (among other things) to produce red blood cells, so if one or more of these are missing or running low then anaemia will develop.

1. Iron deficiency anaemia The most common type of anaemia is iron deficiency anaemia, which basically means the body is running low on iron. The body needs iron to successfully produce haemoglobin the substance that carries oxygen throughout the body. The main reason why people may have a shortage of iron is because the body is losing blood faster than the body can remake it. This can be caused by gastritis, piles, stomach cancer, ulcers or bowel cancer. In women the most common reason for iron deficiency is menstrual bleeding (periods). Another possible reason for a shortage of iron is diet, which is low in iron. Good sources of iron include fruit, dark green vegetables, wholemeal bread, fortified breakfast cereals, beans and meat.
2. Vitamin B12 deficiency anaemia

The main cause of vitamin B12 deficiency anaemia (also called pernicious anaemia) is when there is inadequate absorption of vitamin B12 from the diet. This can be due to ulcers, stomach cancer, diseases of the small intestine or from the after effects of surgery. A vegan or vegetarian is at risk of developing pernicious anaemia because vitamin B12 is only found in foods of animal origin. Vitamin B12 can be found in liver, meat and dairy products. Vitamin B12 is also essential for the nervous system, so if you have a lack of vitamin B12 you can also develop inflammation of the nerves ordementia. 3. Folic Acid deficiency The main reason why you may have a lack of folic acid is due to a poor diet and if you drink excessive alcohol it can reduce the uptake of folic acid. Folic acid can be found in fresh fruit, raw green vegetables, beans and whole grain cereals. Folic acid deficiency and vitamin B12 deficiency anaemia may also be known as megaloblastic anaemia.

Symptoms of anaemia
As anaemia causes a shortage of oxygen, the main symptom is usually chronic tiredness and palpitations. Other symptoms you may get could include:

Pale appearance Shortness of breath and dizziness Fainting Angina Angina is a Latin word meaning chest pain and is the main symptom of heart disease. People with angina experience frequent chest pain, which is

usually worse after or during exercise as the heart struggles to get the oxygen it needs. The pain lasts a few minutes and usually goes away after rest. Angina is the hearts way of saying that it is not getting enough oxygen. This can be either because the coronary arteries that supply blood to the heart are blocked or because the heart is being over worked and needs more oxygen than normal. The pain can be mistaken for indigestion because the tight, burning sensations are similar.

A red, sore tongue and a reduced sense of taste, this is usually only a symptom with folic acid and vitamin B12 deficiency anaemia.

Hereditary Conditions Causing Anemia


Certain hereditary variations in a persons genes can lead to incorrect or decreased production of red blood cells. This can cause red blood cells to not last as long in the blood, not be as effective transporting oxygen from the lungs to different parts of the body, or not be created at all. Listed below are some hereditary conditions that cause anemia through various genetic mechanisms.
i. Sickle Cell Anemia is a disease where the body makes red blood cells that are shaped

like a crescent moon or the letter C when they are depleted of oxygen. These abnormally-shaped cells do not flow as well through the circulatory system and last for only 10-20 days compared to about 120 days for healthy, normal-shaped red blood cells. The body continually makes new red blood cells, but anemia develops because sickle cells do not last very long. Sickle cell disease affects 72,000 people in the United States and is most common in people of African descent.
ii. Thalassemia is a condition where the body does not properly construct one of the

proteins needed to make hemoglobin. Moderate to severe anemia can occur if one of these proteins is defective or missing. Hemoglobin is located in red blood cells and transports oxygen from the lungs to muscles and organs throughout the body. Thalassemia can be treated with transfusions and iron chelation therapy and may be curable with a bone marrow transplant. Hemochromatosis is an iron-related hereditary condition in which the body absorbs more iron from the food than it needs. Because there is no way for the body to get rid of the excess iron, it is stored in various organs like the liver, heart and pancreas. If untreated, the increasing levels of stored iron can cause organs to become diseased. Also known as iron overload disease, hemochromatosis is one of the most common genetic disorders in the United States.

Diagnosing anaemia

Very few tests are needed to diagnose anaemia, the main test is a full blood count, this is basically a blood test that looks at the number, size and shape of red blood cells. The doctor may also measure iron, vitamin B12 and folic acid levels. If anaemia is diagnosed and there is no obvious cause.

Treating anaemia - Screening and Treatment of Hereditary Anemia


Because hereditary anemia is determined by the make-up of genes, there are various ways in which a doctor can detect if a person has one of these genetic variations. The presence of anemia, as determined by a below normal hemoglobin level, is one important indicator that the person may have a hereditary or chronic condition that causes anemia. These methods of detection are usually referred to as genetic screening tests and involve precise analysis of the structure of the genes, but are not available yet for all hereditary anemias. To help the doctor diagnose the anemia, should be sure to tell him or her if family has a history of any of the hereditary conditions listed above. This history can indicate if a person is at-risk for carrying one of the genetic variations which can cause anemia. There are many different types of treatment for hereditary anemias which counteract the bodys inability to sustain healthy levels of red blood cells and minimize the anemia-related symptoms patients often experience. If a person is diagnosed with a hereditary anemia, close communication with the doctor will help him or her provide additional information and the treatment that is best for the person based on what is causing the anemia. The treatment of the anemia varies greatly. First, the underlying cause of the anemia should be identified and corrected. For example, anemia as a result of blood loss from a stomach ulcer should begin with medications to heal the ulcer. Likewise, surgery is often necessary to remove a colon cancer that is causing chronic blood loss and anemia. Sometimes iron supplements will also be needed to correct iron deficiency. In severe anemia, blood transfusions may be necessary. Vitamin B12 injections will be necessary for patients suffering from pernicious anemia or other causes of B12 deficiency. In certain patients with bone marrow disease (or bone marrow damage from chemotherapy) or patients with kidney failure, epoetin alfa) may be used to stimulate bone marrow red blood cell production. If a medication is thought to be the culprit, then it should be discontinued under the direction of the prescribing doctor.

What happens if anaemia is left untreated? If anaemia is left untreated symptoms will get worse and people may become very tired and weak, people may also develop angina or suffer with leg pains when walking. The body's

ability to fight infection may also be weakened so people may find pick up infections more easily.

References..
http://www.homehealth-uk.com/medical/anaemia.htm http://www.anemia.org/patients/featurearticles/content.php? contentid=000414&sectionid=00015
http://www.bmj.com/content/314/7079/492.extract

http://www.medicinenet.com/anemia/article.htm

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