Thalassemia is a genetic disorder that finds its origin in the Mediterranean region and means “Sea of Blood”. Thalassemia is a disease that is caused by the mutated genes that are responsible for making hemoglobin in our blood stream. This results in severe anemia and the sufferer has to be transfused with fresh packed RBCs regularly. Thalassemia major is the term used for the person who is suffering from the disease and thalassemia minor is used for the person who is carrying a mutated hemoglobin gene but is not suffering from the disease.
What is Thalassemia Major?
Thalassemia major is the condition of a child suffering from the disease and is dependent on blood transfusion for survival. There are two genes that are responsible for the formation of hemoglobin and even if one is mutated then other is able to synthesize hemoglobin in thalassemia major both these genes are mutated hence body is not able to make hemoglobin and remains dependent on the transfused RBCs. As life of these RBCs is short, a person suffering from thalassemia major has to be transfused regularly to maintain healthy hemoglobin level.
What is Thalassemia Minor?
Thalassemia minor is used for the persons whose one of the hemoglobin gene is mutated but other is perfectly healthy. In such case hemoglobin is synthesized in sufficient quantity but slightly on lower side than a person whose hemoglobin genes are healthy. Such persons are also called ‘carriers’ because they are carrying the trait for thalassemia but are otherwise healthy. If husband and wife both are thalassemias minor then they have a 25% chance of having a child as thalassemia major and 50% chance as thalassemia minor. Thalassemia minor status is very important to know if there is any known case of thalassemia major in the family as it can prevent the birth of a child suffering from thalassemia major.
Thalassemia Minor vs Thalassemia Major
• Thalassemia major is the state of actual disease and thalssemia minor is the state of potential passage of the disease.
• Thalassemia major patient is dependent on regular blood transfusion throughout life where as thalassemia minor is a healthy person but with slightly lower hemoglobin level.
• Thalassemia major is caused by mutation of both hemoglobin genes where as thalassemia minor is caused by mutation of one gene.
• It is important to prevent the occurrence of thalassemia major in the child yet to be born by proper tests but occurrence of thalassemia minor is not that threatening.