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.
1. Thalassemia minor occurs when one abnormal gene comes from a carrier of
thalassemia but other genes come from a normal person
2. 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.

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