What is Thalassemia?
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a disorder in which your body doesn’t have enough normal, healthy red blood cells (RBC).
This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. It is caused by either a genetic mutation, or a deletion of certain key genes.
The two main forms of thalassemia are alpha thalassemia and beta thalassemia. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones affected.
Each of these two forms of thalassemia has several distinct types. The exact form you have will affect the severity of your symptoms and your prognosis.
Interesting Facts about Thalassemia Carriers :
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease called “thalassemia minor.” If this occurs, you will probably not have symptoms, but you will be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a 25 percent chance of inheriting a more serious form of the disease.
Thalassemia is most common in people from Southeast and Central Asia, the Mediterranean, the Middle East, India, and North Africa.
The symptoms of thalassemia major (Cooley’s anemia) generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other symptoms include:
Thalassemia intermedia is a less severe form of beta thalassemia. While people with this condition still have anemia, they do not need blood transfusions.
Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. In addition to the bone issues and the anemia associated with any kind of thalassemia, hemoglobin H disease can cause these other symptoms:
Simple concepts about heredity that you need to know.
Depending on the type and severity of the thalassemia, a physical examination might also help in the diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a disorder in which your body doesn’t have enough normal, healthy red blood cells (RBC).
This disease is inherited, meaning that at least one of your parents must be a carrier of the disease. It is caused by either a genetic mutation, or a deletion of certain key genes.
The two main forms of thalassemia are alpha thalassemia and beta thalassemia. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones affected.
Each of these two forms of thalassemia has several distinct types. The exact form you have will affect the severity of your symptoms and your prognosis.
Interesting Facts about Thalassemia Carriers :
- It is a genetic disorder inherited from either or both of your parents.
- It is the commonest single gene disorder in the global population .
- In Malaysia, it is estimated that 1 in 20 people is a thalassemia carrier.
- The disorder primarily affects your red blood cells (RBC) resulting in reduced or absent production of haemoglobin –the oxygen carrying vehicle in your body resulting in a medical condition known as anaemia.
Causes and Risk Factors for Thalassemia
Thalassemia occurs when there is an abnormality or mutation in one of the genes involved in hemoglobin production. This genetic defect is inherited from your parents.If only one of your parents is a carrier for thalassemia, you may develop a form of the disease called “thalassemia minor.” If this occurs, you will probably not have symptoms, but you will be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a 25 percent chance of inheriting a more serious form of the disease.
Thalassemia is most common in people from Southeast and Central Asia, the Mediterranean, the Middle East, India, and North Africa.
What Are the Symptoms of Thalassemia?
The symptoms of thalassemia depend on which type you have.
Thalassemia minor
Thalassemia minor usually does not cause any symptoms. If it does, it causes only minor anemia.Beta thalassemia
Beta thalassemia comes in two serious types: thalassemia major (also called Cooley’s anemia) and thalassemia intermedia.The symptoms of thalassemia major (Cooley’s anemia) generally appear before a child’s second birthday. The severe anemia related to this condition can be life-threatening. Other symptoms include:
- fussiness
- paleness
- frequent infections
- poor appetite
- failure to thrive
- jaundice (yellowing of the skin and whites of the eyes)
- enlarged organs
Thalassemia intermedia is a less severe form of beta thalassemia. While people with this condition still have anemia, they do not need blood transfusions.
Alpha thalassemia
Alpha thalassemia also has two serious types: hemoglobin H disease and hydrops fetalis.Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. In addition to the bone issues and the anemia associated with any kind of thalassemia, hemoglobin H disease can cause these other symptoms:
- jaundice
- extremely enlarged spleen
- malnourishment
Simple concepts about heredity that you need to know.
- In every generation, genes are shuffled and re-shuffled. Half of your genetic make up comes from your father and the remaining half comes from your mother.
- Eye color is an example of inherited characteristic, i.e. assuming that the roots of your family trees are “purely”Asian, that explained why you have “brown eyes” instead of blue eyes.
- Similarly, this concept is applicable in thalassemia gene inheritance.
- There is one important term that you need to be clear of to understand how thalassemia is inherited , i.e. ‘thalassemia carrier’.
- A thalassemia carrier is a person who has a copy of the thalassemia gene.If you are a carrier, most of the time you will appear healthy and do not manifest the symptoms of thalassemia. However, a carrier can pass the abnormal gene to the future child (remember it was mentioned earlier, every individual carries one copy of gene from the mother and one from the father).
How Is Thalassemia Diagnosed?
A doctor who is trying to diagnose thalassemia will typically take a blood sample. It will be tested for anemia and for abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells appear misshapen. Abnormally shaped red blood cells are a symptom of thalassemia. Another test may be performed called hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing the abnormal type to be identified.Depending on the type and severity of the thalassemia, a physical examination might also help in the diagnosis. For example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.
How is Thalassemia Treated?
The treatment for thalassemia depends on the type and severity of
disease involved. Your doctor will give you a course of treatment that
is customized to your particular case.
In general, treatments you may receive include:
If you are receiving a blood transfusion, you may also need chelation therapy, which generally involves receiving an injection of a chemical that binds with iron (and other heavy metals). This helps remove extra iron from your body.
Disclaimer: This article Is Not Medical Service. It Should Not Be Taken As Medical Advice. All Concerns About Your Health Should Be Discussed With A Health Professional.
In general, treatments you may receive include:
- blood transfusions
- bone marrow transplant
- medications and supplements
- possible surgery to remove the spleen and/or gallbladder
If you are receiving a blood transfusion, you may also need chelation therapy, which generally involves receiving an injection of a chemical that binds with iron (and other heavy metals). This helps remove extra iron from your body.
Disclaimer: This article Is Not Medical Service. It Should Not Be Taken As Medical Advice. All Concerns About Your Health Should Be Discussed With A Health Professional.
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