Thalassemia is a blood disorder which is inherited and caused by either deletion of key gene fragment or mutation in genes. As a result of which body starts producing abnormal haemoglobin which leads to anaemia. It is transmitted to the next generation when one of the parents is the carrier of the disease. Haemoglobin in red blood cell is responsible for oxygen transport and is protein in nature. When abnormal haemoglobin is formed, there is not enough supply of oxygen to your organs which leads to abnormal functioning and complications.
Haemoglobin has two alpha and two beta chains in their structure. When there is a mutation in alpha globin genes we call it alpha thalassemia. Similarly, when there is a mutation in beta-globin genes we call it beta thalassemia. It is not a single disease but complex group of diseases.
Symptoms vary depending upon type and severity of disease, some general and common symptoms are as follow
• Dark urine
• Bone deformity especially facial bones and brittle bones
• Fatigue and weakness
• Enlarged spleen
• Poor appetite
• Heart issues
• Slow and delayed growth and development
if both parents are the carrier of thalassemia then the child born will inherit mutated genes from both parents and would suffer from thalassemia major. Such patients suffer from severe symptoms of anaemia in the early ages of their life.
if only one parent has mutated gene the child is said to be thalassemia trait carrier and may face minor symptoms of anaemia.