Thalassemia is a common inherited genetic blood disorder that affects the body’s ability to produce normal haemoglobin.
Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life. Those suffering from the severe form of the blood disorder need regular blood transfusion to survive. In India about 10,000 -20,000 children are born with thalassemia every year. Dr Purvi Kutty, Consultant, Paediatric Hemato-Oncology, Apollo Cancer Centres, Navi Mumbai, opens up on the types, symptoms and treatment of the disease.
“There are different types of thalassemia and the type of thalassemia a person may have depends upon the number of defective genes they have inherited. There are mainly 2 types of thalassemia – Beta-thalassemia – Major and Minor Subtype and Alpha thalassemia – haemoglobin H and fetal hydrops subtypes,” says Dr Kutty.
“Thalassemia Major is found in children who receive mutated genes from their parents. Inherited child will be unable to produce the necessary haemoglobin, which eventually leads to chronic fatigue. People with thalassemia trait in one gene are Thalassemia Minor. The confirmation of Thalassemia Minor can happen through a specific blood test known as haemoglobin electrophoresis,” says the paediatrician.
Symptoms of Thalassemia
In transfusion-dependent beta thalassemia, symptoms begin after a baby is few months old. In others it can take few years. The symptoms can include:
• Pale skin
• Acting cranky or upset
• Not growing as much as expected
• Swelling of the belly
• Sallow complexion
• Facial bone or skull being wider than usual
• Dark urine
• Weakness
• Fatigue
Treatment
Transfusion and chelation therapy
Regular transfusion and chelation therapy have helped in improving survival and quality of life of patients with thalassemia and have shifted a previously fatal disease with early death to chronic disease that is compatible with prolonged survival.
Allogeneic hematopoietic stem cell transplantation (HSCT)
The realistic and clinically rationale curative modality available to treat thalassemia major is Allogeneic stem cell transplantation. Recent developments have advanced the technique from both siblings and alternate donors other than fully matched siblings with different intensities of conditioning and graft engineering for global use.
“Prevention of thalassemia and hemoglobinopathies is the only solution to efficiently reduce the huge medical, social and economic impact of these diseases in countries where they occur in high frequencies
Education, carrier detection, prenatal diagnosis are a part of the preventive strategies,” concludes Dr Purvi Kutty.