Thalassemia is a group of inherited blood disorders in which an abnormal type of hemoglobin (the protein that carries oxygen in the blood) is synthesized. It has been estimated that 4 out of 10,000 births suffer from thalassemia.
A normal red blood cell contains both alpha and beta proteins that comprise hemoglobin. When either of the two proteins is affected thalassemia manifests. This leads to malformed RBCs and poor oxygen carrying capacity. A person suffering from thalassemia has often inherited it from a parent who was thalassemic or a carrier of thalassemia.
Different Types Of Thalassemia
There are basically 2 types of thalassemia and they are as follows.1
In this type of thalassemia, the alpha proteins are either fully or partially missing in blood. Four genes (two from each parent) are needed to make a complete alpha globin protein. If one or more of the genes is missing, you develop alpha thalassemia because of insufficient alpha globin.
- You are a ‘silent carrier’ if you have 1 missing gene. This means no signs of the disorder
- You’ll have alpha thalassemia minor with mild anemia if you have 2 missing genes
- You have hemoglobin H disease if 3 or more genes are missing. This leads to moderate to severe anemia
Two genes (one from each parent) make a beta globin protein. A deficiency of one or both genes creates a defective beta globin thereby causing beta thalassemia.
- You’ll have beta thalassemia trait or beta thalassemia minor with mild anemia if you one altered gene
- You’ll have beta thalassemia major or Cooley’s anemia if you have both genes altered. This is a severe condition.
Symptoms Of Thalassemia
The symptoms of thalassemia can be mild or severe depending on the type of the condition you are suffering from.
- Shortness of breath
- Pale skin
- Pale skin
- Recurrent infections
- Loss of appetite
- Enlarged liver and spleen
- Delayed growth and development
Diagnosis Of Thalassemia
Thalassemia is identified at a very early age due to its distinct symptom of anemia, which often requires medical attention. Blood tests that look for the number of red blood cells and hemoglobin levels are the primary ways to determine the presence of the condition. Individuals with thalassemia have a fewer number of RBCs which are distorted when compared to the average healthy person.
Management Of Thalassemia
The treatment approach to thalassemia varies with the severity of the disorder. The various methods of management include:
- Iron and folic acid supplementation in mild forms of thalassemia
- Blood transfusions, bone marrow transplant and surgical therapy in severe cases of thalassemia
Living With Thalassemia
WIth recent advances in medical science, thalassemia has become a condition that one can cope with. Having a strong and supportive family and a team of specialists play a huge role in making things easy. Here are some more tips on how to live life fully despite thalassemia.2
- Follow a healthy diet rich in natural sources of folic acid and iron like leafy greens, meat, and whole grains
- Some thalassemics have high levels of ferritin in blood and hence shouldn’t overload themselves with iron
- Strictly follow your monthly blood tests and yearly tests for vital organ functioning
- Consult your hematologist on what type of physical activity you can do daily for the sake of fitness
- Practice body hygiene effectively and keep your hands clean and sanitized
- Avoid crowds and places where you can contract infections from
- Follow up with your specialist team to keep track of your health and consult them if any fever develops
The right attention and support can make life with Thalassemia a rewarding one. Remember to take good care of yourself so that you stay in the best of health.3