Thalassemia – Blood Disorder

Thalassemia – Blood Disorder

Thalassemia is an inherited blood disorder wherein the body produces an improper form of haemoglobin.  Haemoglobin is a protein molecule that carries oxygen in the red blood cells.  

This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems.

This disorder results in the extreme destruction of red blood cells that leads to anaemia. Anaemia is a condition in which the haemoglobin or red blood cells are less than the normal count.

Symptoms of Thalassemia :

Thalassemia signs and symptoms may include:

  • Fatigue & drowsiness
  • Weakness
  • Pale or yellowish skin/ jaundice & pale skin
  • Facial bone deformities
  • Slow / delayed growth
  • Abdominal swelling
  • Dark urine
  • Chest pain
  • Cold hands and feet
  • Shortness of breadth
  • Leg cramps
  • Rapid heart beat
  • Poor feeding
  • Headaches
  • Greater susceptibility to infections

Several types of thalassemia exist, including alpha-thalassemia, thalassemia intermedia and Cooley anemia. The signs and symptoms you experience depend on the type and severity of your condition. Some babies show signs and symptoms of thalassemia at birth, while others may develop them during the first two years of life. Some people who have only one affected hemoglobin gene don’t experience any thalassemia symptoms.

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout body. The mutations associated with thalassemia are passed from parents to children.

Thalassemia disrupts the normal production of hemoglobin and healthy red blood cells. This causes anemia. With anemia, blood doesn’t have enough red blood cells to carry oxygen to tissues — leaving the person fatigued.

Risk factors :

Factors that increase risk of thalassemia include:

  • Family history of thalassemia –  Thalassemia is passed from parents to children through mutated hemoglobin genes. If you have a family history of thalassemia, you may have an increased risk of the condition.
  • Certain ancestry – Thalassemia occurs most often in African-Americans and in people of Mediterranean and Southeast Asian ancestry.

Different types of thalassemia :

There are three main types of thalassemia (and four subtypes):

  • beta thalassemia, which includes the subtypes major and intermedia
  • alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis
  • thalassemia minor

All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly

Thalassemia  Major : A Serious Disorder

The more severe form of the disease is thalassemia major, also called Cooley’s Anemia. It is a serious disease that requires regular blood transfusions and extensive medical care.

Those with this disorder, usually show symptoms within the first two years of life. They become pale and listless and have poor appetites. They grow slowly and often develop jaundice.

Without treatment, the spleen, liver and heart soon become greatly enlarged. Bones become thin and brittle. Heart failure and infection are the leading causes of death among children with untreated thalassemia major.

The use of frequent blood transfusions and antibiotics has improved the outlook for children with thalassemia major. Frequent transfusions keep their hemoglobin levels near normal and prevent many of the complications of the disease.

But repeated blood transfusions lead to iron overload – a buildup of iron in the body – that can damage the heart, liver and other organs. Drugs known as “iron chelators” can help rid the body of excess iron, preventing or delaying problems related to iron overload.

Thalassemia has been cured using bone marrow transplants. However, this treatment is possible only for a small minority of patients who have a suitable bone marrow donor. The transplant procedure itself is still risky and can result in death.

Diagnosis :

Most children with moderate to severe thalassemia receive a diagnosis by the time they are 2 years old.

People with no symptoms may not realize that they are carriers until they have a child with thalassemia.

Blood tests can detect if a person is a carrier or if they have thalassemia.

Treatment : 

Treatment depends on the type and severity of thalassemia :

Blood transfusions: These can replenish hemoglobin and red blood cell levels. Patients with thalassemia major will need between eight and twelve transfusions a year. Those with less severe thalassemia will need up to eight transfusions each year, or more in times of stress,  illness, or infection.

Iron chelation: This involves removing excess iron from the bloodstream. Sometimes blood transfusions can cause iron overload. This can damage the heart and other organs. Patients may be prescribed deferoxamine, a medication that is injected under the skin, or deferasirox, taken by mouth.

Complications :

Various complications can arise.

Iron overload :   This may be due to the frequent blood transfusions or the disease itself.

Iron overload raises the risk of hepatitis,  (swollen liver), fibrosis (scarring in the liver), and Cirrhosis, or progressive liver damage due to scarring.

The endocrine glands produce hormones. The pituitary gland is particularly sensitive to iron overload. Damage may lead to delayed Puberty and restricted growth. Later, there may be a higher risk of developing  diabetes and either an underactive or overactive thyroid gland.

Iron overload also increases the risk of arrhythmias,  or abnormal heart rhythms, and congestive health failure.


Sometimes, a blood transfusion will trigger a reaction where the person’s immune system reacts to the new blood and tries to destroy it. It is important to have the exact blood type match to prevent this kind of problem.

Enlarged spleen :

The spleen recycles red blood cells. In thalassemia, the red blood cells may have an abnormal shape, making it harder for the spleen to recycle them. The cells accumulate in the spleen, making it grow.

An enlarged spleen can become overactive. It can start to destroy the healthy blood cells the patient receives during transfusions. Sometimes, a patient may need a splenectomy, or surgical removal of the spleen. This is now less common, because removing the spleen can lead to other complications.

Infection :

Removing the spleen leads to a higher chance of infection, and regular transfusions increase the risk of contracting a blood-borne disease.

Bone deformities :

In some cases, the bone marrow expands, deforming the bone around it, especially the bones of the skull and face. The bone can become brittle, increasing the risk of fracture.

Outlook about life :

The outlook depends on the type of blood disorder.

A person with the thalassemia trait has a normal life expectancy. However, heart complications arising from beta thalassemia major can make this condition fatal before the age of 30 years. 

In Bengaluru, Rashtrothana is helping Thalassemia patients.

Rashtrotthanna Parishat  :

Rashtrotthana Parishat is a social service organisation  founded in Bengaluru in 1965. It is an initiative started by few social workers to bring social reforms through service activities and publications in Karnataka. 

Rashtrotthana Parishat runs various projects across the State of Karnataka.

Rashtrotthana Rakta Nidhi (Blood Bank) is one among those. It was established in Chamarajpet, Bengaluru in 1993.  It is an ISO certified blood bank,  provides blood for the needy 24 hours each day.

In 2011-2012, the blood bank collected 48,647 units of blood through various blood donation camps, and is reported to be the largest blood bank in the state.

To know more click on the link

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