-Thalassémie is actually a group of hereditary diseases of the blood that a person's ability to produce hemoglobin, which anemia affects. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to the cells in the body.About 100,000 babies worldwide are born with severe forms of thalassemia each year. Thalassemia, most people of Italian, Greek, Middle Eastern, South Asian and African origin.
The two main types of thalassemia are called "Alpha" and "beta" depending on which part of an oxygen-carrying protein in red blood cells lack. Both types of thalassemia are inherited in the same way. The disease is transmitted to children by parents that the mutated thalassemia genes. A child who has one mutated gene site is a carrier, sometimes called "thalassemia trait." Most carriers lead completely normal, healthy lives.
A child two thalassemia trait genes are inherited - one from each parent will have the disease. A child of two carriers has a 25 percent chance of the two trait genes and developing the disease, and a 50 percent chance of a thalassemia trait carrier.
Most individuals with alpha thalassemia lighter forms of the disease, with varying degrees of anemia. The most severe form of alpha thalassemia, which mainly individuals of Southeast Asia, Chinese and Filipino ancestry, results in fetal or newborn death touch.
A child with two copies of the mutated gene for beta thalassemia beta thalassemia will stand disease. The child can be a mild form of the disease, known as thalassemia intermedia, which causes anemia lighter seldom require transfusions.
Thalassemia Major: A Serious Disorder
The more severe form of the disease thalassemia major, also Cooley's anemia called. This is a serious disease that requires regular blood transfusions and extensive medical care.
Those with thalassemia major usually show symptoms within the first two years of life. They are pale and listless and had a poor appetite. They grow slowly and often develop jaundice. Without treatment, the spleen, liver and heart significantly increased soon. In thin and crisp. Heart failure and infection are the leading causes of death among children with untreated thalassemia major.
The use of frequent blood transfusions and antibiotics has improved the outlook for children with thalassemia major. Frequent transfusions keep their hemoglobin levels near normal and many of the complications of the disease occur. But repeated blood transfusions lead to iron overload - a build up of iron in the body - the heart, liver and other organ damage. Drugs known as "iron chelators" can help rid the body of excess iron, preventing or delaying problems associated with iron overload.
Thalassemia cured by using bone marrow transplants. This treatment is only possible for a small minority of patients a suitable donor. The transplant is still risky and can cause death.
Gene therapy offers hope for a cure
Scientists are developing a gene therapy may develop a cure for thalassemia offer. Such a treatment may involve inserting a normal beta globin genes (genes that are abnormal in this disease) in the patient's stem cells, the immature bone marrow cells that are the precursors of all other cells in the blood.
Another form of gene therapy involves the use of drugs or other methods to the patient's genes that produce fetal hemoglobin to activate - the form of hemoglobin in fetuses and newborns. Scientists hope that the production of fetal hemoglobin increase will compensate for the patient's deficiency of adult hemoglobin.
