Thalassemia is the most transferred genetic disorder in kids

Thalassemia also called the Mediterranean Anaemia, this disorder is known to be most widespread in African, Mediterranean and Asian countries. Every year May 8 is observed as World Thalassaemia Day across the world to raise awareness, here are certain things you'd like to know about it.
Thalassemia is a blood disorder, which is an inherited autosomal disorder where abnormal hemoglobin is formed in the body.

This is due to a variant or the missing gene that determines how the body makes hemoglobin. Resulting in improper transport of oxygen in the body and destruction of red blood cells. People suffering from thalassemia have less hemoglobin and fewer red blood cells which translate into anemia or anemic conditions.

Thalassemia is the most common genetic disorder that gets transferred to children from parents through genes. Nearly 40 million of the world population carry the genetic defect. Four million Indians are thalassemia carriers. Around 25,000 babies are born in India every year with thalassemia.

Thalassemia is a condition that requires repeated blood transfusion. Combination of repeated blood transfusion and chelation therapy has dramatically increased the life expectancy of thalassemic patients. On the other hand repeated blood transfusion leads to iron overload.

Symptoms of Thalassemia

• Weakness
• Fatigue
• Slow growth
• Pale appearance
• Abnormal swelling
• Abnormal bone structure, espe cially in the face and skull
• Heart problems
• Iron overload

High prevalence of osteoporosis and osteopenia is seen in these patients. BMD (bone mineral density) is done to assess the severity of osteoporosis. Zinc and vitamin D deficiency is reported frequently in these patients.

The writer is Paediatric Haemato-Oncologist, American Oncology Institute, Hyderabad.

By Dr Parinitha Gutha​