Thalessemia

Thalessemia is a genetic blood disease caused by a defect in the rate of production of hemoglobin. The condition is further classified into Thalessemia minor and Thalessemia major (Cooley's anemia, beta Thalessemia). Thalessemia minor is the more common and milder form, in which life span is normal. Thalessemia major can be serious but it is fortunately very rare. 

Thalessemia minor is an inherited form of hemolytic anemia where the small red blood cells (RBCs) are able to carry less oxygen than normal RBCs. People with Thalessemia Minor, sometimes known as Trait, carry Thalessemia but they are not ill. They are completely healthy and normal but some of them have slight anemia. Most people with Thalessemia Minor discover that they have the condition only if they have a special blood test or if they have a child with Thalessemia Major. It is important to know if you have Thalessemia Minor later in life, as it may cause some problems if the person and their partner want to start a family. 

Thalessemia major is an inherited form of hemolytic anemia, characterized by red blood cell (hemoglobin) production abnormalities. This is the most severe form of anemia, and the oxygen depletion in the body becomes apparent within the first 6 months of life. If left untreated, death usually results within a few years. 

It affects males and females equally. Thalessemia is most common in people of Mediterranean descent, especially Italians and Greeks. Both types of Thalessemia are found in an area that extends from northern Africa and southern Europe to Thailand, including Iran, Iraq, Indonesia, and southern China. Thalessemia major is more common in families who intermarry.

Most children with thalassemia major appear healthy at birth, but during the first year or two of life they become pale, listless and fussy, and have a poor appetite. They grow slowly and often develop jaundice (yellowing of the skin). 
Without treatment, the spleen, liver, and heart soon become greatly enlarged. Bones become thin and brittle; face bones become distorted, and children with thalassemia often look alike. Heart failure and infection are the leading causes of death among children with untreated thalassemia major. 
Children with thalassemia intermedia may develop some of the same complications, although in most cases, the course of the disease is mild for the first two decades of life.

The use of frequent blood transfusions and antibiotics has improved the outlook for children with thalassemia major. Children with thalassemia intermedia usually do not require transfusions, although they may be recommended if complications start to develop. 
When children with thalassemia major are treated with frequent transfusions (generally every 3 to 4 weeks) aimed at keeping their hemoglobin level near normal, many of the complications of thalassemia can be prevented. This form of treatment, referred to as "hyper transfusion," enhances the child's growth and well-being, and usually prevents heart failure and bone deformities. 
Unfortunately, repeated blood transfusions lead to a buildup of iron in the body, which can damage the heart, liver and other organs. A drug referred to as an iron chelator, an iron binding agent, can help rid the body of excess iron, preventing or delaying problems related to iron overload. The drug is usually administered daily via a mechanical pump that pumps the drug underneath the skin while the child is sleeping. Thalassemia has been cured using bone marrow transplants. However, this form of treatment is possible only for a small minority of patients who have a suitable bone marrow donor, and the transplant procedure is still risky and can result in death.

The inheritance of a defective gene causes an imbalance in the alpha and beta protein globin chains necessary for the production of hemoglobin. Genes must be inherited from both parents to acquire the disease. If one gene is inherited, the person will be a carrier of the disease but will not have symptoms. Beta Thalessemia is caused by a mutation in the globin chain. When two carriers become parents, there is a one-in-four chance that any child they have will inherit a Thalessemia gene from each parent and have a severe form of the disease. There is a two-in-four chance that the child will inherit one of each kind of gene and become a carrier like its parents; and a one-in-four chance that the child will inherit two normal genes from its parents and be completely free of the disease or carrier state. These odds are the same for each pregnancy when both parents are carriers.

Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier.
Prenatal testing using chorionic villus sampling (CVS) or amniocentesis can detect or rule out thalassemia in the fetus. Early diagnosis is important so that treatment can prevent as many complications as possible.