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What Is Thalassemia?

Thalassemia is a hereditary condition that affects the blood which leads to an abnormal form of haemoglobin. Haemoglobin is an important protein molecule present in RBC that carries oxygen. This disorder leads to the destruction of RBC which leads to anaemia. These range from a mild illness without symptoms to a serious or life-threatening disease. The modern treatment offers a good outlook on severe causes of thalassemia, but it requires long-term care and treatment. Good treatment is important in order to prevent complications from emerging. Thalassemia is most common among people with Mediterranean or Asian family backgrounds.

Causes Of Thalassemia

The origin is an inherited (genetic) change affecting the genes telling the body how to make a substantial chemical called haemoglobin. Haemoglobin is the oxygen-containing molecule in blood-it is the one that imparts red colour to the blood. Haemoglobin is found in cells that are part of the blood called red blood cells.

Haemoglobin is composed of various components. The key components are called alpha chains and beta chains that are placed together to form the molecule of haemoglobin. Part of the haemoglobin in thalassemia is flawed, usually either the alpha chains or the beta chains. This means some of the haemoglobin isn’t functioning properly. As a result, natural haemoglobin is not enough, and the red blood cells easily break down. This makes the person who lacks haemoglobin (anaemic), with different symptoms.

In the meantime, the body is trying to make more haemoglobin and red blood cells. Therefore, the blood supply enters the process of overproduction which may cause further symptoms and complications. The volume of irregular haemoglobin varies depending on the type of thalassemia. It may be much, or only a small proportion, of the haemoglobin of the body. This is essentially what defines the extent of thalassemia. Some specific factors are involved, as well. So, two individuals with the same type of thalassemia may have different disease severity from the same disorder.

Also Check: MCQs on Thalassemia

The main forms of thalassemia are called thalassemia alpha and thalassemia beta. Other rarer forms are also present.

Beta Thalassemia

Beta thalassemia is a blood disorder that is inherited and distinguished by decreased functional haemoglobin levels. Haemoglobin is present in the RBCs – red blood cells; it is the blood’s oxygen-carrying red pigment rich in iron. Red blood cells have a primary function of supplying oxygen all through the body. Beta thalassemia has three forms majorly–mild, intermedia, and severe, suggesting disease severity. Those with beta-thalassemia minor typically are asymptomatic (have no symptoms) and the disorder is often not known to individuals.

Individuals affected are treated by regular blood transfusions. Because of frequent blood transfusions, those with major and intermediate beta-thalassemia can produce excess iron levels in the body (iron overload). This overload of iron can lead to many other symptoms affecting various systems however can be treated with medication. Beta-thalassemia is induced by gene mutations of the haemoglobin-beta (HBB). Those with beta-thalassemia minor seem to have a mutation in one HBB gene, whereas, in those with the main and intermediate forms, all HBB genes have mutations.

The signs of intermedia beta-thalassemia are highly variable, and severity falls in the wide range between the two extremes of the major and minor types. The characteristic findings of beta-thalassemia is anaemia caused by abnormally small (microcytic) red blood cells that are not formed in normal amounts and do not contain adequate functional haemoglobin. As a result, sufferers do not receive enough oxygen-rich blood (microcytic anaemia) throughout the body. Individuals affected may experience classic signs of anaemia including tiredness, weakness, shortness of breath, dizziness or headaches.

Beta thalassemia, which is also referred to as Cooley’s anaemia, is ought to be a majorly adverse form of beta-thalassemia. Infants that are affected show symptoms in the span of the first two years of life, sometimes 3 to 6 months post-birth. In developing countries, the complete or classic “name” of beta-thalassemia major tends to occur predominantly. Many people aren’t going to have serious symptoms as put across further. Though beta-thalassemia major is a lifelong, chronic disease, if people follow the currently recommended treatments, most people can live happily, fulfilling their lives.

Beta thalassemia in the United States is relatively rare but it is one of the world’s most severe autosomal recessive disorders. The prevalence of symptomatic cases in the general population is estimated at about 1 per 100,000 persons. The disease is especially prevalent in the Middle East, the Mediterranean, Africa, Central Asia, the Indian and the Far East. Individuals who come from these areas in other areas of the world are at greater risk of beta-thalassemia.

Thalassemia Trait

This means you are carrying a gene for thalassemia but still can make enough normal haemoglobin. Yes, thalassemia won’t cause you any signs or problems. Unless you have a specific blood test, you won’t know you have it. Nevertheless, understanding the diagnosis can be helpful, because:

  • Other forms of thalassemia offer you very mild anaemia in which the red blood cells are smaller and paler than average (referred to as microcytic and hypochromic in laboratory reports). Iron deficiency can be confused.
  • Your kids can inherit the gene. Nevertheless, your child may be given a dual dose of an irregular haemoglobin gene if you have the same gene as your mother. In order to check the risk of impacting the infant, parents or unborn children are scanned.

How Is Thalassemia Inherited?

A child inherits both parents’ haemoglobin genes. For example, if both parents have beta-thalassaemia, there is 1 in 4 chances that the child has normal haemoglobin genes; 1 in 2 chance that the child has beta-thalassaemia; and 1 in 4 chance that the child has BTMor BTI.

Who Gets Thalassemia?

Anybody can carry a gene for thalassaemia. On average, there is a thalassaemia gene (and therefore has a thalassaemia trait) in 3 in 100 of the world population. Depending on the roots of your ancestors, the chance of having a thalassaemia gene varies. Thalassaemia is more prevalent in people of Mediterranean, Asian, or African descent.

How Is Thalassemia Diagnosed?

Diagnosis is done through a blood test. To see what sort of haemoglobin is present in the blood, the blood sample is analyzed. In some cases, for the order to diagnose the exact type of thalassaemia, extra tests such as DNA(genetic) tests are required. When needed it can help test other family members.

Can Thalassemia Be Cured?

A stem cell transplant is an effective treatment. It means either a transplant of bone marrow or a transplant of cord blood. These treatments take a donor’s normal blood cells and give thalassaemia to the individual. Such cells last for life and produce natural haemoglobin-a life-long cure when this transplant is successful. Nevertheless, a transplant for stem cells is not sufficient for all. There are serious risks involved. A good donor is required.

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