Thalassemia is a blood disorder that is passed on by parents to children (inherited). This disorder causes abnormal production of hemoglobin cells that carries oxygen. Hemoglobin is the major constituent of red blood cells (about 45% of the total volume of blood). These cells carry oxygen from the lungs to other cells and tissues of the body. Thalassemia causes excessive destruction of the red blood cells, leading to anemia.
This is an inherited condition and is neither contagious or infectious. It is caused by inheriting a defective gene from both parents or a single carrier parent. The mutation, or deletion of certain genes leads to thalassemia.
People who suffer from mild thalassemia may not require treatment, those with a severe form may need to undergo regular blood transfusions.
Types of Thalassemia
The hemoglobin is made up of alpha globin and beta globin proteins. The defect in either of the proteins affects the hemoglobin cells. There are two main types of thalassemia:
- Alpha thalassemia: It occurs when a gene or genes of the alpha protein are mutated or deleted.
- Beta thalassemia: When a gene or genes of the beta protein are affected, causing problems with the beta globin protein production.
The alpha thalassemia commonly occurs in people of the Southeast Asia, the Middle East, China as well as those of African descent. The beta thalassemia is more common in persons of the Mediterranean descent and to a lesser extent people of the Asian, Chinese, African American descent.
Each type of thalassemia has different forms. Both alpha and beta thalassemia have two common forms:
- Thalassemia major: When both parents are carriers and pass the gene to the children, it leads to thalassemia major. It leads to severe form of disease that requires treatment.
- Thalassemia intermedia: The combination of one of the more severe thalassemic gene combined with a milder thalassemic gene leads to thalassemic intermedia.
- Thalassemia minor: When only one parent passes the defective gene to the child, it leads to thalassemia minor. In most cases, the affected person does not show any symptoms, but is known as a carrier of the disease. In some people, the condition leads to minor symptoms of the disease.
Symptoms of Thalassemia
In case of thalassemia minor, the affected person carries just one mutated or deleted gene. They may or may not show any signs or symptoms of thalassemia. The affected person may suffer from a milder form of anemia or have no anemia. They do not require any blood transfusions or iron therapy as they remain symptom free. Iron therapy is only given if they show signs of iron deficiency.
The symptoms of thalassemia major usually develop within a year of life. The child lacks the ability to produce normal hemoglobin cells and thus, suffer from:
- Pale appearance
- Slow growth
- Failure to thrive
- Severe anemia
The chronic anemia causes bone deformities and may lead to death within 10 years of life. The only way to prevent death is blood transfusions.
Symptoms of thalassemia intermedia usually appear around 2 years of age. They include:
- Moderately anemic
- Slow growth rate
If we go in deeper, then the symptoms of beta thalassemia major, also called as Cooley’s anemia appear by the time the child reaches his/her second birthday. This is a serious condition that can prove to be fatal. The symptoms include:
- Fussy child
- Recurrent infections
- Poor appetite
- Failure to thrive
- Enlarged organs
As this is a very serious form of thalassemia, the child has to undergo frequent blood transfusions.
In case of alpha thalassemia, there are two types: Hemoglobin H disease and hydrops fetalis.
There arebone problems associated with hemoglobin H disease. You will find the forehead, cheeks and jaws overgrow. Along with anemia, the other symptoms include:
- Enlarged spleen
Another severe form of the disease is hydrops fetalis. It appears before birth and the child born with this condition is either stillborn or may die shortly after birth.
Causes of Thalassemia
The abnormality or mutation in one of the genes that leads to hemoglobin production leads to thalassemia. This is a genetic condition that is inherited from the parents. When only one set of genes is passed on from a single parent, it leads to thalassemia minor. When both parents are carriers and pass their genes to the child, it leads to thalassemia major.
How is it Diagnosed?
In most cases of moderate and severe form of thalassemia, the condition is usually diagnosed in childhood. This is because they develop the symptoms of severe anemia in early life. Those with milder forms of thalassemia find it out only because of symptoms of anemia or the doctor finds out the condition during a routine blood check up.
In some cases, because their relatives suffer from the same disease, they undergo tests to find out if they too suffer from this hereditary disease. The tests usually include a blood test. The red blood cells are observed under the microscope to see if they are misshapen, that indicates thalassemia. Another blood test called hemoglobinelectrophoresis is carried out. In this, the different molecules of the red blood cells are differentiated so that the abnormal cells can be easily recognized.
Treatment for Thalassemia
The management of thalassemia depends on the type and severity of the disease. Mild thalassemia rarely requires any type of treatment. Some of the treatments include:
- Regular blood transfusions for severe form of thalassemia
- Medications and supplements for iron deficiency
- Bone marrow transplantation
- Surgery in some cases to remove the spleen or gallbladder
Those undergoing blood transfusions will have to undergo chelation therapy, that is, take injections of a chemical that binds iron to remove the excess from the body.
Thalassemia prognosis depends on the type of the disease. Mild and minor forms usually allow the affected person to live a normal life. Moderate to severe forms may lead to heart failure in the early 20s. Thus, speak to your doctor regarding your condition and how treatments can help improve your lifespan as well as quality of life.
Written by: healthplus24.com team
Date last updated: March 02, 2015