April 14, 2016 711
- Anaemia occurring due to loss of blood
- Anaemia that results due to decreased or faulty red blood cell production (sickle cell anaemia, thalassemia)
- Anemia caused by destruction of red blood cells (haemolytic anaemia)
Although not spoken about, thalassemia is quite a common disease that occurs in human beings. It is essential to be aware of having this condition. Let us read more about this disease.
What is Thalassemia?
Thalassemia is a blood disorder that is inherited genetically. The haemoglobin that is produced in a person with thalassemia is abnormal in form. Hemoglobin is the protein molecule in red blood cells that carries oxygen. Thalassemia results in extreme destruction of red blood cells (RBCs), which leads to anaemia. This disease is hereditary, which means that one or both your parents will be a carrier of the disease. The disease occurs due to a genetic mutation or at times, deletion of specific important gene fragments.
What are the different types of Thalassemia?
There are 2 main forms of this disease. These differ based on the mutation in the genes. They are:
- Alpha-thalassemia – characterised by the mutation or abnormality in atleast one of the alpha globin genes.
- Beta-thalassemia - beta globin genes are affected.
Both these forms have different distinct sub-classifications. The precise form a person has will impact the severity of the symptoms and hence, prognosis.
How does Thalassemia occur?
The disease occurs when there is a mutation or abnormality in one of the genes that is involved in production of haemoglobin. This defect is inherited from parents. Even if only one parent is a carrier for this defect, the offspring can develop what is known as thalassemia minor. In this case, there may not necessarily be any symptoms but once again, he or she becomes a carrier. A few people with this form of the disease can develop certain minor symptoms.
In case both the parents are carriers of the disease, the offspring has a higher chance of heritance of the more serious type of the disease.
So what are the signs and symptoms that we need to look out for?
Your symptoms will depend on the type of the disease you have:
Usually no symptoms. May cause minor anaemia.
There are 2 further sub-classifications:
- Thalassemia major, or Cooley’s anaemia
- Thalassemia intermedia.
It is said that by the time the child turns 2 years old, the symptoms of thalassemia major start to appear. In this form, severe anaemia is seen to occur and this can be dangerous. Some other symptoms include:
- Poor appetite
- frequent illness/infection
- failure to thrive
- jaundice – yellowing of skin, whites of the eye
- organ enlargement
The anaemia resulting from thalassemia major is so severe that it requires blood transfusions from time to time.
Thalassemia intermedia is a less severe form and people with this condition do not require blood transfusions.
Alpha-thalassemia is a more common disorder worldwide and is seen to be more prevalent in Meditteranean region, Africa, the Middle East. There are 2 further sub classifications, which are hemoglobin H disease and hydrops fetalis.
Hemoglobin H disease
Can lead to bone problems – overgrowth of forehead, cheekbone and jaw. Some other resulting symptoms of Hemoglobin H disease include:
- jaundice, which is a yellowing of the skin or the whites of the eyes
- a very enlarged spleen
Yet another very severe form of the disease – this occurs before birth. Those with this condition are still-born or die immediately after birth.
How can I find out if I have Thalassemia?
To check if you have thalassemia, your blood sample is taken, sent to a lab and tested for anaemia and presence of abnormal haemoglobin. If odd shaped RBCs are spotted, it is a sign of thalassemia. Further tests such as hemoglobin electrophoresis can be performed to identify the abnormal haemoglobin accurately.
With these test results coupled with a physical examination, diagnosis can be made by the doctor. For example, an extremely enlarged spleen can be an indicator of the presence of haemoglobin H disease in the patient.
Will storing cord blood help in treatment of this disease?
Yes, the best use of stored cord blood has been seen to be for non-cancerous blood disorders such as thalassemia major. It is curable via a cell transplant from a matching donor, in most cases, the patient’s own sibling is the best match.
Can this disease/defect be treated? If so, how?
Treatment depends upon the type and severity of the disease involved. After diagnosis, your doctor will detail the treatment course that is best suited for you.
Some of the common treatment methods include:
- Bone marrow transplant
- Blood transfusion
- Supplements and medication
- If need arises, spleen or gall bladder removal surgery may be done.
As with most cases of thalassemic patients, supplements containing iron is usually not prescribed by doctors. This is true in case of a requirement of blood transfusion by the patient. People who take up blood transfusions tend to receive more iron which the body cannot get rid of easily. The excess iron can end up accumulating in the tissues and this can be fatal.
Some people may need chelation therapy if they are receiving a blood transfusion. In this method, they receive an injection of a chemical which binds to iron and a few other heavy metals, thus removing extra iron from the body.
What is the outlook for the long term for people with Thalassemia?
The long-term outlook depends on the type of the disease a patient has. People with mild or minor form of the disease can lead normal lives.
Certain other forms of thalassemia may be severe or mild. In case of the severe form, there is danger of heart failure.
It is advisable to consult your doctor regarding your condition and also discuss regarding treatment.
Wondering if you too may be a carrier? Get to know your health status by grabbing our limited Health Screening Packages today!
by Hridya Anand
A biochemist by education who could never put what she studied to good use, finally found GetDoc as a medium to do what she loved - bring information to people using a forum that is dedicated to all things medical. View all articles by Hridya Anand.