Every year approximately 10000 children are born with thalassemia worldwide. Thalassemia is a blood related disorder. It is an inherited disease that makes an abnormal form of haemoglobin. Haemoglobin is a protein in red blood cells and is responsible to carry oxygen. Thalassemia patients experience degeneration of red blood cells that leads to anaemia. Mostly children suffer with thalassemia. There are two main types of thalassemia: Alpha and beta thalassemia.
Thalassemia is common in people from Asia, Africa, Middle East and few Mediterranean countries like Greece and Turkey. 15 million people are known to suffer with thalassemic disorders globally. There are around 240 million carriers of beta- thalassemia worldwide.
Causes of Thalassemia
As thalassemia is an inherited disorder, one or both of your parents must be a carrier of the disease. Thalassemia is caused due to genetic mutation or deletion of certain gene fragments. In Thalassemia patients the mutation occurs in one of the genes that are involved in haemoglobin production.
Gene mutation results in defects in gene which helps in production of two haemoglobin proteins called alpha globin and beta globin. Alpha thalassemia is caused when a gene or genes related to alpha globin protein production undergo mutations and changes. Beta thalassemia is seen in patients when the mutation or changes occurs in gene responsible for production of beta globin protein.
Children born with thalassemia appear normal and healthy at birth, but shows anaemia symptoms during the first year of life. People with major thalassemia show visible symptoms. The most severe alpha thalassemia causes stillbirth. Minor thalassemia patients generally do not show any visible symptoms. In rare cases minor thalassemia patients show signs of minor anaemia. The most common symptoms of beta thalassemia include:
- Growth failure
- Shortness of breath
- Frequent infections
- Poor appetite
- Enlarged organs
- Bone deformities
Beta thalassemia is a serious type of anaemia that can be life threatening. Beta thalassemia patients require regular blood transfusions to avoid the complications.
Severe thalassemia can lead to early death due to heart failure between 20-30 years of age. Untreated thalassemia leads to major problems like heart failure, liver disorders. Most of the thalassemia patients are more prone to infections when compared to healthy people without thalassemia.
The common symptoms of alpha thalassemia include: Jaundice, enlarged spleen and malnutrition. Most of the babies either die soon after the birth or are stillborn.
Once the patient is diagnosed with thalassemia they need to take lifelong treatment. Thalassemia can be treated on early diagnosis. Treatment depends on the severity of disease. The most common therapies adapted by thalassemia patients are:
- Blood transfusions
- Bone marrow transplantation
- Surgical removal of spleen and gallbladder
Thalassemia cases can be reduced by following certain preventive measures.
- Genetic counselling – Genetic counselling plays an important role in prevention of thalassemia. Married couples are counselled to reduce the thalassemia major babies. Patient’s families should be aware of the consequences of thalassemia babies.
- Pre-natal diagnosis – Pregnant women are diagnosed with thalassemia in the first trimester of pregnancy. Pre-natal diagnosis helps in reducing the chances for birth of thalassemia major child.
- Premarital screening – Screening can be done through Hb electrophoresis and PCR based analysis. This screening method helps in detecting minor carriers. Marriage between two thalassemia minor cases should be avoided.
- Extended family screening – Thalassemia can prevented by counselling and screening the relatives that helps in avoiding birth of thalassemia major babies.