Thalassemia: Causes, Symptoms, Diagnosis, And Treatment

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What is thalassemia?
Thalassemia is an inherited blood disorder where an abnormal form of hemoglobin is produced in the body. Hemoglobin is a protein molecule that is contained in red blood cells (RBC) and helps to carry oxygen from lungs to cells.

Thalassemia is not a contagious disease but it can be passed from parents to children through genes.

Causes of thalassemia
The cause of thalassemia is mutation or abnormality of the gene which is involved in hemoglobin production. This genetic problem passes from parents to children when the parents are carriers of thalassemia.

Thalassemia minor occurs when one of the parents is a carrier and the other one is normal. Thalassemia minor is not the actual disease rather it can just create a carrier. The actual thalassemia (Beta thalassemia major) occurs when two of the parents are carriers.

Different types of thalassemia
The type of thalassemia depends on the variation and number of genes. Example:

Alpha thalassemia: Generally, hemoglobin is made of alpha and beta parts. Alpha thalassemia occurs due to the absence of the alpha part. ...
... Depending on how many Genes are abnormal, there are 4 types of Alpha Thalassemia.

Type 1: Here the only one gene has the mutation and makes a carrier but there is no symptom.

Type 2: Two genes have mutations and make a carrier with mild Anemia.

Type 3: This type is also called Hemoglobin H Disease where three genes have mutations.

Type 4: Four genes have mutations and, in this case, usually birth a dead baby.

Beta thalassemia: This type of thalassemia occurs due to the absence of the beta part. There are two types of beta-thalassemia depending on the carriers.

Thalassemia minor occurs when one abnormal gene comes from a carrier of thalassemia but other genes come from a normal person
Thalassemia major occurs when two of the genes come from the carrier of thalassemia
Symptoms of thalassemia

Because of abnormal hemoglobin production, the red blood cells (RBC) break down before it's normal life span. The normal lifespan of RBC is 120 days. The symptoms of thalassemia vary depending on the type and severity.

● Yellow or pale face

● Physical weakness and fatigue

● Aversion to food

● Growth retardation of children

● Dark urine (May have sediment)

Complications of Beta Thalassemia

Thalassemia is a life-threatening disease that can lead to premature death. Usually, the symptoms of a thalassemia child appear at the age of 2 years and increase the complications day by day. The complications of Beta thalassemia are given below:

● Severe anemia

● Brittle bones

● Liver cirrhosis

● Decrease the Immunity

● Abnormal heart rhythms

● Heart failure

● Splenomegaly

Why is thalassemia?

A thalassemia baby is born when the marriage occurred between two carriers of thalassemia. There is only one way to prevent thalassemia that is explained below:

Every boy and girl should be tested for thalassemia before marriage. Never arrange a marriage between two carriers of thalassemia. Marriage will be safe when one is a carrier but the other one is a normal person.

Treatment options for thalassemia

There is no curable treatment for thalassemia except bone marrow transplant that is very costly. Other treatment options for thalassemia are Blood transfusion, Iron chelation, Counseling, Splenectomy, etc. The diet chart for a thalassemia patient is given below:

Eat food that contains folic acid and vitamin 12: Broccoli, peanut, green vegetables, orange, lemon, etc.

Try to avoid food that contains iron: Dark chocolate, egg yolk, sea fish, cereals, spinach, cabbage, etc.