Evolution of Thalassaemia Management Four Decades in Thalassaemia Care – Our Achievements and Challenges

A “Bad” Disease in the past

Before the 1980s, thalassaemia was stigmatized as a ‘bad’ disease with gloomy outcome. Patients were not transfused or inadequately transfused. Even when they were transfused, they were often not given fresher blood units from the hospital blood banks. They developed characteristic special face features called Cooley’s facies due to bone overgrowth with time. Fig. 8 They had poor health and lacked energy for usual daily activities. Their liver and spleen grew bigger and bigger with time. They were under threat of various transfusion-transmitted infections including hepatitis B virus, hepatitis C virus (HCV), Human Immunodeficiency Virus (HIV). They had more bacterial infections such as klebsiella and Yesinia.

However, repeated or regular blood transfusion led to new complications due to accumulation of excessive iron in various organs. As these transfused red blood cells have a finite and short lifespan, they degenerate and release iron into the body. As human body has limited capacity to eliminate these iron molecules, they are then deposited in various organs causing damage. These include endocrinopathies like diabetes mellitus, hypothyroidism, and hypogonadism; cardiomyopathies, liver cirrhosis. Fig. 9 As iron overload destined to develop with time, complications and early death will occur if iron removal cannot be achieved.