What is Thalassemia?
It’s critical to first understand the medical problem before moving on to the causes, effects and treatment options. So, first, let’s define Thalassemia. Thalassemia is an inherited blood condition characterised by the production of an irregular type of haemoglobin by the body.
What is haemoglobin and how does it work?
In addition, haemoglobin is the oxygen-carrying molecule in red blood cells. Anemia is caused by a blood disorder in which an insufficient amount of haemoglobin is produced, resulting in the loss of a large number of red blood cells.
Causes & Symptoms
The mutation in genes involved in Thalassemia is caused by a mutation in one’s genes that are involved in haemoglobin formation. Your parents have passed this illness on to you. You are more likely to get thalassemia minor if one of your parents is a carrier, but if both parents are carriers, you will inherit a severe form of the blood disorder. Symptoms normally appear during the first two years of a child’s life, although they may appear as soon as the baby is born in some cases.
Most of the common symptoms are:
- Pale or yellow skin tone
- Delayed growth
- Bone deformities
- Dark urine
A blood test can diagnose Thalassemia. The lab technician counts red blood cells and looks for anomalies in their scale, shape, or colour. Blood tests will aid DNA research in the quest for mutated genes. The prenatal examination is another way to determine the severity of thalassemia. Chorionic Villus Sampling and Amniocentesis are two tests used to diagnose Thalassemia in fetuses. A sampling of the chorionic villi is normally performed in the 11th week of pregnancy. A small portion of the placenta is removed for analysis in this test. Amniocentesis is normally performed in the sixteenth week of pregnancy. Examining a sample of the fluid surrounding the fetus is part of this process.
Thalassemia that is mild does not require any treatment. Treatment options for mild to extreme Thalassemia include:
Therefore, severe types of Thalassemia necessarily require regular blood transfusions, perhaps every few weeks. Blood transfusions produce an accumulation of iron in the blood, which can damage the heart, liver, and other organs over time. Chelation Therapy can prevent it.
However, this procedure helps to keep your health in order by removing extra iron from your blood. Frequent blood transfusions can cause an increase in iron levels in the blood, which is harmful to your health. Having said that, even without a blood transfusion, you can have an abundance of iron in your blood. As a result, it’s important to keep an eye on your well-being from time to time.
Stem Cell Transplant
Bone marrow transplant is another name for stem cell transplant. In certain instances, it may be advantageous. Therefore, it can reduce the need for lifelong blood transfusions and iron overload medications in children with serious Thalassemia.
Thalassemia patients can benefit from some lifestyle changes and home remedies. Patients will also benefit from avoiding too much iron, maintaining a balanced diet, and avoiding infections.
While it is impossible to escape inheriting thalassemia from your parents, it is treatable. If you have Thalassemia or bear the Thalassemia gene, you can consult a genetic counselor for advice before starting a family.