Description
Thalassemia is a disease of the Blood.
The genetic disorder that affects the production of Hemoglobin and Red Blood Cells is Thalassemia. In this the body produces abnormal or unhealthy Hemoglobin.
Our body produces three types of blood cells. These cells are produced in the Bone marrow. Bone Marrow is a spongy tissue that is present inside the empty space in the Bones. It produces Blood cells. The Red Blood Cells carry hemoglobin. Hemoglobin is a type of protein that gives red color to the Blood. It makes 40% of Blood. It combines with oxygen and provides oxygen to all body parts.
Normally, the body produces healthy Hemoglobin that plays important functions in the body. Sometimes the genetic syndrome may produce defected Hemoglobin. It may be a result of genetic mutation. It passes from one generation to another generation.
Types of Thalassemia
Alpha Thalassemia : A chain of four genes makes alpha protein. If one or more genes are missing from this chain it is termed as Alpha Thalassemias. It may be due to some mutation or abnormality. If one or two genes are missing, then it is considered as mild problem. It will show no symptoms and can be treated. If three genes are missing or mutated the condition is termed as Hemoglobin H Disease. In this condition you need a regular transfusion of Blood. It may give rise to Anemia too. If four genes are missing it causes fatal results.
Beta Thalassemia : In this, one or two beta genes are mutated or missing. It may cause severe problems.
Causes of Thalassemia
It is a genetic syndrome that passes from parents to children. It is a result of mutation in the genes. In this, there is a defect in the DNA that makes Hemoglobin protein.
If not treated properly, Thalassemia may cause
Infections
Delayed Growth
Enlarged Spleen
Abnormal Structure of Bones
Differential Diagnosis : Thalassemia is a genetic disorder caused by gene mutation. It effects the level of hemoglobin in the body. In this the body fails to produces enough amount of hemoglobin. People with Thalassemia have Anemia too, because they have less number of hemoglobin.
In Sickle cell Anemia, the body fails to produces abnormal shaped hemoglobin, which are unable to travel through the blood vessels. It may block the spleen and results into Spleen Enlargement.