World Thalassemia Day: Know all about this inherited blood disorder

Today, on the occasion of World Thalassaemia Day, read on to know all about this inherited blood condition where a person may require lifelong blood transfusions.

By: Jahnavi Sarma | | Updated: May 8, 2020 11:18 am

Tags: symptoms of thalassemia World Thalassemia day

Every year on May 8, we commemorate World Thalassaemia Day. This day is all about raising awareness about thalassaemia disease and honouring patients and parents for not giving up hope. @Shutterstock

Every year on May 8, we commemorate World Thalassemia Day. This day is all about raising awareness about thalassaemia and honouring patients and parents for not giving up hope in the face of this condition. Countries and organisations across the world hold events to encourage those who struggle to live with the disease on a daily basis. Thalassemia is a hereditary blood disorder where your body has less hemoglobin than normal. Hemoglobin is the medium that enables your red blood cells to carry oxygen to different parts of the body. This year the theme is ‘The dawning of a new era for thalassemia: Time for a global effort to make novel therapies accessible and affordable to patients’. Also Read - World Thalassemia Day 2019: New ray of hope for beta thalassemia

This is an inherited condition where a person’s body is unable to produce the required amount of haemoglobin and red blood cells. It is very common among people of Mediterranean, South Asian and African descent. Also Read - World Thalassemia Day 2019: All you need to know about blood donation

Symptoms of Thalassemia

Symptoms of this condition can range from mild to severe to life-threatening. Common symptoms of this disease are drowsiness, shortness of breath and fatigue. Chest pain and frequent headaches may accompany low energy levels. Your child may have developmental problems and exhibit symptoms of jaundice and a pale skin. He or she may also be prone to dizziness and faintness and have a greater susceptibility to infections. Abdominal swelling, deformity of facial bones and dark coloured urine are the other symptoms of thalassaemia. Also Read - Thalassemia: 'Set up testing centres in in rural areas'

Types of thalassemia and causes

Certain mutations in the DNA of cells that make hemoglobin cause this condition. Parents pass on these mutations to their children. The affected haemoglobin molecules are alpha and beta chains. If the production of either alpha or beta chains come down, you get either alpha-thalassemia or beta-thalassemia. You inherit 2 alpha chains from each of your parents.

In the former condition, the severity of symptoms will depend on the number of gene mutations you inherit from your parents. The more mutated genes you inherit, the more severe your thalassemia will be. If you inherit one mutated gene, you will have no signs or symptoms of thalassemia. But you will be a carrier and pass it on to your children. If you inherit 2 mutated genes, your symptoms will be mild, and 3 mutated genes mean that your symptoms will be moderate to severe. Inheritance of all 4 mutated genes is very rare. It generally results in stillbirth. If they survive, they will need lifelong blood transfusions. Sometimes, your doctor may also recommend stem cell transplant.

In beta-thalassemia, the severity of thalassemia will depend on which part of the hemoglobin molecule is affected. Here, you inherit one gene from each parent. If you inherit one mutated gene, your symptoms will be very mild. But if you inherit 2 mutated genes, your symptoms will be severe. A child will two defective beta hemoglobin genes will be healthy at birth but soon develop signs and symptoms within the first two years of life.

Treatment of thalassemia

There is no cure for this disease and you cannot prevent it either. If symptoms are mild, you can deal with it with minor precautions and lifestyle modifications. But sometimes, symptoms may be severe, and a patient may require periodic blood transfusions.

Published : May 8, 2020 11:15 am | Updated:May 8, 2020 11:18 am