WHAT IS THALASSEMIA?
Thalassemia is an inherited blood disorder on which body makes an abnormal form of hemoglobin which is characterised by less hemoglobin and fewer red blood cells in your body than normal. Hemoglobin is the protein molecule present in red blood cells and carries oxygen to various parts of the body. Our blood consists of two different proteins- an alpha and a beta. If our body does not produce enough of either of these two proteins, the RBCs do not form properly, thereby not carrying sufficient oxygen. This results in anemia, which begins in early childhood and lasts throughout the life. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.
Thalassemia is one of the world’s most common single-gene disorders. Thalassemia is more prevalent in regions in which malaria is endemic because the RBC phenotype confers some protection against malaria. It is inherited disease, which means one of your parents must be a carrier of this disease. It’s caused by either a genetic mutation or a deletion of certain key gene fragments. It is also possible to have Thalassemia trait. Being a carrier of Thalassemia does not have any serious health problems themselves, but has a risk of having children with this condition.
WHAT ARE THE DIFFERENT TYPES OF THALASSEMIA?
There are 2 main types of Thalassemia.
- Alpha Thalassemia
- Beta Thalassemia
All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.
- ALPHA THALASSEMIA
Alpha Thalassemia occurs when your blood does not make enough alpha globin. In order to make alpha globin, you need to have four genes, two from each parent.
There are two serious subtypes of Alpha Thalassemia, which are:
1. Hemoglobin H disease: In this condition, the lack of alpha globin is great enough to cause severe anemia and serious health problems such as an enlarged spleen, bone deformities and fatigue. The cheeks, forehead, and jaw may all overgrow. Hemoglobin H disease can also cause : jaundice and malnourishment. This disease destroys the entire red blood cells.
2. Hemoglobin Fetalis: It is the severe form of Thalassemia, in which there are no alpha genes in individual’s DNA, which causes the gamma globins produced by the fetus to form an abnormal hemoglobin called Hemoglobin Barts. Most individuals with this condition are either stillborn or die shortly after being born. In some extremely rare cases where the condition is discovered before birth, in utero blood transfusions have allowed the birth of children with hydrops fetalis who then require lifelong blood transfusions and medical care.
- BETA THALASSEMIA
People whose hemoglobin does not produce enough beta globin, have Beta Thalassemia. Two genes, one from each parent, are inherited to make beta globin.
This type of Thalassemia comes in three types, which includes:
1. Thalassemia Minor: In this condition, the lack of beta protein is not great enough to stop the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia.2. Thalassemia Intermedia: This is a less severe form which develops because of alterations in both beta globin genes. In this condition, lack of beta globins cause a moderately severe anemia and significant health problems, including bone deformities and enlargement of the spleen. People with thalassemia intermedia need blood transfusions to improve the quality of their life but not in order to survive.3. Thalassemia Major or Cooley’s Anemia: This is the most severe form of Beta Thalassemia, in which complete loss of beta proteins lead to life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.
WHAT ARE THE SIGNS AND SYMPTOMS OF THALASSEMIA?
The signs and symptoms of Thalassemia depend upon the type and severity of the condition. The common signs and symptoms of Thalassemia include:
- Pale or yellowish skin
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine
- Excess iron in the body
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.
WHAT ARE THE COMPLICATIONS FROM THALASSEMIA?
Possible complications of Thalassemia are:
- Iron Overload
- Bone Deformities
- Enlarged Spleen
- Slowed growth rates
- Heart Problems
- Pregnancy problems
WHAT ARE THE TREATMENT OPTIONS FOR THALASSEMIA?
The treatment for Thalassemia depends upon the type and severity of the disease involved. Your doctor will give you a course of treatment that will work best for your particular case.
Some of the treatments include:
- blood transfusions
- bone marrow transplant
- medications and supplements
- possible surgery to remove the spleen or gallbladder
HOW TO MANAGE THALASSEMIA?
Since, thalassemia is a genetic disorder, therefore there is no way to prevent it. However, there are ways you can manage the disease to help prevent complications. The measures you can take to manage Thalassemia are:
- Proper diet and exercise
- Avoid excess iron
- Avoid infections
- Go for a gene therapy
Are you preparing for an appointment to consult the best doctor in the city, to help you manage Thalassemia, you can get an appointment at Radix Healthcare.