What is Thalassemia?
It’s critical to understand the medical problem before moving on to the causes, effects, and treatment options. So, 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?
Haemoglobin is a protein in your red blood cells that carries oxygen to your body’s organs and tissues and transports carbon dioxide from your organs and tissues back to your lungs. Anaemia is a condition in which you lack enough healthy red blood cells to carry adequate oxygen to your body’s tissues, resulting in insufficient production of haemoglobin and a large loss of red blood cells.
Causes and Symptoms
The mutations in the DNA of cells that make haemoglobin — the substance in red blood cells that carries oxygen throughout your body causes Thalassemia. The mutations associated with thalassemia pass on from parents to children. 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 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:
3. Pale or yellow skin tone
4. Delayed growth
5. Bone deformities
6. Dark urine
A blood test can be used to confirm the diagnosis of 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. And the prenatal examination is also a way to determine the severity of thalassemia. Chorionic Villus Sampling and Amniocentesis are two tests used to diagnose Thalassemia in foetuses. 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 foetus is part of this process.
Mild Thalassemia does not require any treatment. Treatment options for mild to extreme Thalassemia include:
Thalassemia patients can benefit from some lifestyle changes and home remedies. For example, avoiding too much iron, maintaining a balanced diet, and avoiding infections.
While you cannot avoid inheriting from your parents, it can be treated. If you have Thalassemia or bear the Thalassemia gene, you can consult a genetic counsellor for advice before starting a family.