Thalassemia is a genetic blood disorder in which people are not able to make enough haemoglobin and have fewer red blood cells in their body than normal. “Our body needs oxygen and haemoglobin is found in red blood cells that carry oxygen to all parts of the body. A decrease in haemoglobin leads to poor functioning of the body’s organs due to low oxygen supply,” explains Dr Ian Pinto, Consultant Blood & Cancer Specialist, Jaslok Hospital & Research Centre.
Types of thalassemia
The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the haemoglobin molecule is affected by the mutations. As haemoglobin molecules are made of alpha and beta parts and both can be affected by mutations. Alpha Thalassemia disease and Beta Thalassemia disease are 2 primary types of Thalassemia disease.
Risk factors of thalassemia
Dr Ian explains the factors that increase your risk of thalassemia:
a) Family history of thalassemia: It is known that if a person has a family history of Thalassemia, you may have an increased risk of the condition as it is passed from parents to children through mutated haemoglobin genes.
b) Thalassemia is passed from parents to children through mutated haemoglobin genes. If you have a family history of thalassemia, you may have an increased risk of the condition.
c) Ancestry. African Americans are more prone to Thalassemia. It is also common among the people of Mediterranean and Southeast Asian ancestry.
Prevention of thalassemia
Creating awareness about thalassemia especially to pregnant women and women of childbearing age is important in preventing thalassemia. Screening programs with education followed by testing and counselling are ongoing in various parts of India. If you or your family members have Thalassemia, talk to your doctor who can help you before planning a family. He or she will guide you on the risk of passing the defect to your children and can help you have an unaffected child through prenatal testing (testing before the baby is born). Prenatal testing involves taking a sample of amniotic or chorio villus sample (CVS) which can detect thalassemia in the baby.