- by Medihope Super Speciality Hospital
- 0 Shares
- Feb 27 2018
WHAT IS THALASSEMIA DISORDER?
Thalassemia is an inherited blood disorder wherein the body produces an abnormal form of hemoglobin and red blood cells.
Thalassemia is most often genetic in nature, a defect inherited from one or both parent. This condition occurs when there is an abnormality or mutation in one of the genes involved in haemoglobin production.
If only one of your parents is a carrier of Thalassemia, you may only develop a mild form of thalassemia, known as, thalassemia minor. In this case, you probably won’t show any obvious symptoms but still be a carrier of the disease. However, in some cases, minor symptoms can show up.
You have a greater risk of developing a more severe form of the disease if both your parents are carriers of thalassemia.
There are three main forms of thalassemia, including:
- Beta thalassemia: Comprises the subtypes major and intermedia.
- Alpha thalassemia: Comprises the subtypes haemoglobin H and hydrops fetalis.
- Thalassemia minor
The different types and subtypes of thalassemia tend to vary in symptoms and severity.
The symptoms of thalassemia can vary from person to person but some of the common symptoms include:
- Bone deformities
- Dark urine
- Delayed growth and development
- Excessive drowsiness, fatigue and tiredness
- Pale or yellow skin
- Shortness of breath
- Leg cramps
- Greater susceptibility to infections
- Chest pain
It is not necessary that everyone has visible symptoms of thalassemia. Obvious signs may show up late in childhood or adolescence.
Thalassemia could be diagnosed earlier in life or once you have a child. The common methods to detect thalassemia usually involve:
- Blood test
A complete blood count can check levels of haemoglobin and the level and size of red blood cells.
- A reticulocyte count
This test will help measure how fast red blood cells, or reticulocytes, are produced and released by the bone marrow.
This will help determine the cause of anaemia, whether it is thalassemia or iron deficiency.
- Genetic testing
DNA analysis will help determine whether a person has thalassemia or faulty genes.
- Prenatal testing
This will reveal whether a foetus has thalassemia or not and its severity.
The treatment for thalassemia will depend on the type and severity of the disease. However, the common techniques of treatment may range from:
- Blood transfusions: Replenishing haemoglobin and red blood cell levels.
- Iron chelation: Removing excess iron from the bloodstream.
- Bone marrow or stem cell transplant
- Surgery: To correct bone abnormalities and remove the spleen and gallbladder.
- Gene therapy: Scientists are investigating genetic techniques to treat thalassemia.
- Medications & Supplements
A severe form of thalassemia would require constant medical care and attention. Thalassemia may cause various complications, especially during pregnancy. Lifestyle changes would need to be administered in order to manage the condition effectively.
Note We at Medikoe provide you with the best healthcare articles written and endorsed by experts of the healthcare industry to boost you knowledge. However, we strongly recommend that users consult a doctor or concerned service provider for expert diagnosis before acting on this information.