Thalassemia is included in the group of disorders known as haemoglobinopathies. Other types can also be inherited. These conditions do not affect the quantity of the globin chains, but can severely impact the structure of the globin chains. Common hemoglobinopathies include Sickle Cell, Hemoglobin E and Hemoglobin C [1].
Thalassemia with a co-inherited hemoglobinopathy can be challenging to diagnose. Deletions, mutations and hemoglobinopathies all sound very intimidating, but you have to understand that they are not always bad news. Some co-inherited genes make symptoms worse than expected, but it can also be the other way around. Some genes can cancel each other out, while others make each other have a more profound impact.
The variations in thalassemia discovered in recent years are a testament to the constant evolution of the gene pool. Some patients do not fit the known or expected symptoms. It is very important to choose a doctor who is open-minded and is willing to explore new horizons and consider other possibilities. Science and human nature evolve in parallel and sometimes we simply do not have all the answers until we look for them.