Understanding and managing Thalassemia, a genetic disorder

 New Delhi, May 8, 2017: World Thalassemia day, observed on the 8th of May every year, aims to raise awareness about the disease and ways to manage it. According to the World Health Organization (WHO), Thalassaemia is a blood-related genetic disorder which involves the absence of or errors in genes responsible for production of haemoglobin, a protein present in the red blood cells. It is, therefore, a genetic disease in which the haemoglobin is not formed in the blood. This leads to the presence of defective red blood cells (RBCs), which cannot absorb oxygen, leading to weakness, fatigue and anaemia.

Thalassemia Major is the more severe form of the disease which occurs when a child inherits two mutated genes, one from each parent. Children born with Thalassemia Major usually develop the symptoms of severe anaemia within the first year of life. They lack the ability to produce normal, adult haemoglobin and experience chronic fatigue. Individuals with Thalassemia Minor are usually asymptomatic and often have mild anaemia which may worsen in the presence of nutritional deficiency such as iron, folic acid or vitamin B12.  Any family where the child suffers from Thallasemia should know the disorder, how they can manage it and which treatment options would be most apt. Thalassemia is a manageable condition if it is diagnosed early on.

Dr VP Choudhry, Senior Consultant, Haematology, Fortis Healthcare gives some vital points below to understand the symptoms, diagnosis and treatment procedures for Thalassemia:

 Common Symptoms:

  • Delayed growth and development of the body
  • Excessive tiredness and fatigue
  • Yellow or pale skin
  • Bone deformities
  • Dark-coloured Urine


  • Amniocentesis and chorionic villi sampling during pregnancy
  • Routine blood tests
  • Tests for reduced fertility or infertility
  • Genetic testing and counselling
  • Prenatal diagnosis

Treatment Procedures:

  • Medications and supplements
  • Surgery to remove the spleen or gallbladder
  • Blood transfusions
  • Bone marrow transplant

Ø  How Bone Marrow Transplant is beneficial:

  • Destroys and prevents regeneration of defective stem cells
  • Ensures sufficient immune suppression for good engraftment
  • Infuses stem cells with the normal gene

Ø  How Blood Transfusions is beneficial:

  • Improves  Anaemia
  • Suppress the ineffective erythropoiesis ( process which produces red blood cells)

Dietary Management of Thalassemia:

  • Low-fat, plant-based diet
  • Limited intake of iron-rich foods (Fish and meats are rich in iron, so these should also be limited)
  • Avoiding fortified cereals, breads and juices.
  • Being  physically active; moderate-intensity workouts are best (Walking and Yoga)

 Management of Thalassemia on a daily basis:

  • Regular blood transfusion
  • Use of iron chelators ( single or combination) if required
  • Early detection & management of endocrine problems
  • Psychosocial support

According to the WHO, 4.5% people in the world are affected by Thalassemia. Over 250 million persons are affected by thalassemias and allied disorders in the world as per thalassemiaindia.org. The alpha and beta thalassemia are the most commonly-inherited single-gene disorders in the world with the highest prevalence in areas where malaria was or still is prevalent. In India, there are nearly 1.25 lakh children suffering from the disorder, out of which 12,000 children suffer from Thalassemia Major. Thalassemia is common in the Northern Western & North East Part of India than in the South.  As per a Government study under the aegis of the ICMR in 6 states of India between 2000-2005, the prevalence of ß-Thalassemia has been reported to be high. A total of 60,000 individuals were screened of which half were college students and half were pregnant ladies in antenatal clinics. The average prevalence of ß-thalassemia trait was 2.59% with different centres varying from 1.5% to 3.4%.



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