Uncovering the forbidden Blood Bond: 101

Written by Taj Prabhugaunker, Final year MBBS, GMC-Goa.

A young mother, breastfeeding her first born infant. Just a 6 months old angel with twinkling eyes ready to rule over a thousand hearts. And yet worry lines mask the happiness on that mother’s face, as she has noticed her angel going pale over the last few days. There was little play and decreased feed, she knew it’s about time she’d pay any heed. And there it was, on his report ,staring back! The dreaded diagnosis to live throughout his life: Thalassemia.

‘Thalassemia’ is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of hemoglobin, the protein which carries oxygen and sustains life. When there isn’t enough hemoglobin, the body’s red blood cells cease to function effectively, hence there are fewer healthy red blood cells circulating through the bloodstream. Being an autosomal dominant disorder, India has the largest number of children with Thalassemia major in the world – about 1 to 1.5 lakhs and almost 42 million carriers of ß (beta) thalassemia trait. About 10,000 -15,000 babies with thalassemia major are born every year.

Risk factors:

If both the parents carry the gene for the disorder then there is a 25% chance of their child inheriting it.

Main types

•α-thalassaemia-occurs when genes related to

the a-globin protein are missing or changed (mutated)

•ẞ-thalassaemia- when similar gene defects affect production of the ẞ-globin protein.

Three forms based on the severity include:

•Thalassaemia major

•Thalassaemia intermedia

•Thalassaemia minor

Signs & Symptoms

1)Weakness, fatigue and malaise


3)Facial bone deformity (Thalassemic facies / Chipmunk facies)

4) Abdominal swelling ( Hepatosplenomegaly)

5)Iron overload


  1. Blood Transfusion at regular intervals based on the severity ( most often: every  15 days) and ensuring that Hb does not fall under 10gm/dl. 
  2. Use of iron chelators to prevent iron overload
  3. Vitamin & calcium supplements
  4. Hepatitis B immunization to prevent it’s transmission through blood transfusion.


1)Birth of Thalassaemia Major children can only be prevented by knowing the thalassemia status of the parents before the child is conceived.

2) If both parents test positive for the carrier state, they need to be counseled for prenatal diagnosis in the first trimester of pregnancy to know whether the index fetus is affected or not.


3) If affected, medical termination is an option offered to the couple.

4) In most programs, carrier screening and counseling are being performed on a voluntary basis.

Our Role:

While most normal adults commonly deal with needle prick phobia, Thalassemic children have seemingly no choice but to get accustomed to a series of periodic pricking-prodding and fighting just to receive that pint of blood to survive, to serve the forbidden Blood bond.

World Thalassemia Day is a global healthcare event commemorated every year on May 8th to raise awareness about this condition among the local public and policymakers, apart from supporting and strengthening the morale of the victims who have battled for years with this fatal disease.

As health care workers, it is our duty to spread awareness and be the mythbusters.

Rather, it’s the least that we can and should offer to make their life better.

Be Aware. Share. Care: Strengthening Education to Bridge the Thalassaemia Care Gap.

You and me, let’s make the difference.


  1. thalassaemia.org.cy
  2. www.ncbi.nlh.nih.gov
  3. Textbook of paediatrics OP. Ghai 8th edition

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