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 (α) protein chains and two beta (ß) protein chains. Hb A2 - has two alpha (α) and two delta (δ) protein chains.

· Hb F - has two alpha (α) and two gamma (γ) 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 à code à α chains 2 genesàcodeàß 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, mutationsàgenesàreduction in chain producedà upsets the balance of α & ß beta chainsàaccumulation 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: α & ß. Beta thalassemia is the most common.

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

Patients with haemoglobin H disease also develop large spleens. The spleen has blood forming cellsà these cells become hyperactive and over expand àresult is a spleen that is often ten-times larger than normal. For example.Hemoglobin H Disease : three genes are missing: patient will have mild to moderately severe anaemia. If severeàneed blood transfusions. you may feel weak. The foetus will be stillborn. Alpha Thalassemia Major: all four genes are missing: This is called alpha thalassemia major. The bone marrow works at an extraordinary pace in an attempt to compensate for the anaemia. and diarrhoea. and feel short of breath. either from the disease itself or from frequent blood transfusions. despite good food intake. the marrow cavity within the bones is stuffed with red cell precursorsàcause the bone to "mold" and flair out. As a result. This is sometimes called haemoglobin H disease. Patients with haemoglobin H disease often are small and appear malnourished. or the child will die soon after birth SYMPTOMS Mild thalassemia usually doesn't cause any symptoms. tire out more easily. Bone deformities: bone marrow expand->causes bones to widenàresults in abnormal bone structureàface and skull Enlarged spleen: thalassemia destroys a large number of red blood cellsà removing these cells causes the spleen to enlarge. 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. Moderate or severe disease may cause symptoms of anaemia. These patients typically have enlarged spleens. COMPLICATIONS Complications Iron overload: People with thalassemia can get an overload of iron in their bodies.(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.

Heart problems: such as congestive heart failure and abnormal heart rhythms (arrhythmias). TREATMENT Treatment depends on how severe your condition is. o Surgery to remove the spleen. An iron level test. · A blood test that measures the amounts of different types of haemoglobin. does not need treatment. especially the liver.Slowed growth rates: anemia can cause a child's growth to slow. . Puberty also may be delayed in children with thalassemia. A gene test. Folic acid is a vitamin that your body needs to produce red blood cells. to help find out the type of thalassemia. · Mild thalassemia. may be associated with severe thalassemia DIAGNOSIS Tests required: · · · A complete blood count (CBC). o Folic acid. o A blood or bone marrow stem cell transplant. the most common form. · If patient has repeated blood transfusionsàbody gets too much ironàdamage. in rare cases. · Avoid vitamins that contain ironà intake of extra vitamin Càincreases iron absorption from food. Moderate thalassemia may be treated with blood transfusions and folic acid supplements. · Severe thalassemia may be treated with: o Blood transfusions.Get a flu vaccine each year.

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

Sign up to vote on this title
UsefulNot useful