THALESSEMIA Thalassemia is a group of inherited disorders that affects the amount and type of haemoglobin a person produces.

Haemoglobin helps red blood cells spread oxygen through your body. Low levels of haemoglobin may cause anaemia. A haemoglobin molecule is made up of heme, an iron-containing complex, globin, protein chains that surround the heme. The types of protein chains found in the haemoglobin molecule affect its structure and function. Severe anaemia can damage organs and lead to death. Different types of haemoglobin are classified according to the type of protein chains they contain. Normal haemoglobin types include: Haemoglobin A - has two alpha () protein chains and two beta () protein chains. Hb A2 - has two alpha () and two delta () protein chains.

Hb F - has two alpha () and two gamma () protein chains. This is the primary haemoglobin produced by the foetus during gestationMutations in the genes coding for the globin chains can cause disorders in haemoglobin production. 4 genes code chains 2 genescode chains

Inherited disorders of haemoglobin production caused by mutations in these genes fall into two categories: Thalassemia, or decreased production of normal haemoglobin (discussed in this article) Production of an abnormal haemoglobin molecule

In thalassemia, mutationsgenesreduction in chain produced upsets the balance of & beta chainsaccumulation unusual form of haemoglobin. causes It is passed from parent to child. A defect in one or more genes causes it. Both parents must carry a gene for the disease in order to pass it to their child. CLASSIFICATION ( asked for 10 marks) There are two main types: & . Beta thalassemia is the most common.

Beta thalassemiaBoth alpha and beta-globin are needed to make haemoglobin. Beta thalassemia occurs when one or both of the two genes that make beta-globin don't work or only partly work as they should. Beta thalassemias are due to mutations in the HBB gene on chromosome 11 If one damaged genemay have mild anaemia and don't need treatment. This is called beta thalassemia minor or beta thalassemia trait. It happens when the individual gets a normal gene from one parent and a thalassemia gene from the other. When both genes are damaged, it means individual has got a thalassemia gene from each parent. May have moderate or severe anaemia. Moderate anaemia (beta thalassemia intermedia), need blood transfusions. Extreme activity of the bone marrow produces bone deformities of the face and other areas, along with enlargement of the spleen. The patient has thalassemia that is more severe than thalassemia trait, but not so severe as to require chronic transfusion as do the patients with thalassemia major. Severe anaemia (called beta thalassemia major or Cooley's anaemia) needs chronic blood transfusions throughout life. Symptoms of anaemia usually begin within a few months after birth. In some patients the anaemia is so severe, that death occurs without transfusions. Other patients could survive without transfusions, for a while, but would have terrible deformities. While transfusions are life-saving in patients with thalassemia major, transfusions ultimately produce iron overload. Chelation therapy, usually with the iron-binding agentDesferal, is needed to prevent death from iron-mediated organ injury. Alpha thalassemia It is due to a deletion or mutation in one or more of the four alpha globin gene copies. The thalassemias involve the genes HBA1 and HBA2 The more genes affected, the less alpha globin produced. Silent Carrier State (1 affected gene): one gene is missing or damaged: no symptoms and dont need treatment. But the individual is a silent carrier. This means individual doesn't have the disease but can pass the defective gene to the child. Alpha Thalassemia Trait: two genes are missing or damaged: patient will have very mild anaemia that will not need treatment. This is called alpha thalassemia minor or alpha thalassemia trait.

Hemoglobin H Disease : three genes are missing: patient will have mild to moderately severe anaemia. This is sometimes called haemoglobin H disease. If severeneed blood transfusions. These patients typically have enlarged spleens. The bone marrow works at an extraordinary pace in an attempt to compensate for the anaemia. As a result, the marrow cavity within the bones is stuffed with red cell precursorscause the bone to "mold" and flair out. Patients with haemoglobin H disease also develop large spleens. The spleen has blood forming cells these cells become hyperactive and over expand result is a spleen that is often ten-times larger than normal. Patients with haemoglobin H disease often are small and appear malnourished, despite good food intake. Alpha Thalassemia Major: all four genes are missing: This is called alpha thalassemia major. The foetus will be stillborn, or the child will die soon after birth SYMPTOMS Mild thalassemia usually doesn't cause any symptoms. Moderate or severe disease may cause symptoms of anaemia. For example, you may feel weak, tire out more easily, and feel short of breath. Other symptoms also can occur depending on how severe your disease is and what problems it causes. Children with severe thalassemia may grow slowly (failure to thrive) and have problems with feeding, frequent fevers, and diarrhoea. COMPLICATIONS Complications Iron overload: People with thalassemia can get an overload of iron in their bodies, either from the disease itself or from frequent blood transfusions.(explain about iron given in the treatment ) Infection: people with thalassemia have an increased risk of infection. This is especially if the spleen has been removed. Bone deformities: bone marrow expand->causes bones to widenresults in abnormal bone structureface and skull Enlarged spleen: thalassemia destroys a large number of red blood cells removing these cells causes the spleen to enlarge.

Slowed growth rates: anemia can cause a child's growth to slow. Puberty also may be delayed in children with thalassemia. Heart problems: such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia

DIAGNOSIS Tests required: A complete blood count (CBC). A gene test. An iron level test.

A blood test that measures the amounts of different types of haemoglobin, to help find out the type of thalassemia. TREATMENT Treatment depends on how severe your condition is. Mild thalassemia, the most common form, does not need treatment.

Moderate thalassemia may be treated with blood transfusions and folic acid supplements. Folic acid is a vitamin that your body needs to produce red blood cells.Get a flu vaccine each year. Severe thalassemia may be treated with: o Blood transfusions. o Folic acid. o Surgery to remove the spleen. o A blood or bone marrow stem cell transplant, in rare cases. If patient has repeated blood transfusionsbody gets too much irondamage, especially the liver. Avoid vitamins that contain iron intake of extra vitamin Cincreases iron absorption from food.

If too much iron chelation therapy. Removes iron from your body.