Thalassemia: What You Need To Know

Thalassemia: What You Need To Know

Jun 26 , 2022


Essa lab

Thalassemia: What You Need To Know

Thalassemia is the most common hereditary hemoglobin disorder, occurring in 4.4 out of 10,000 live births. It is most common in people with the Mediterranean, South Asian, or African ancestry.

What is Thalassemia

Thalassemia is a hereditary blood condition that impairs the production of haemoglobin and red blood cells in the body. A person with thalassemia will have an insufficient number of red blood cells and haemoglobin, as well as red blood cells that are too small or defective.

There are two types of thalassemia alpha and beta, of which beta thalassemia is common in Pakistan. Alpha and beta are referred to as the alpha and beta parts of hemoglobin being absent in the individual. Thalassemia can manifest as a minor type with no symptoms or major with lethal conditions.

Cause Of Thalassemia

Thalassemia is caused by a genetic mutation when genes responsible for making hemoglobin are defected and result in absence of alpha or beta parts of hemglobin. This disorder is passed to children by their parents.

Signs And Symptoms

Thalassemia symptoms differ based on the type of thalassemia.

Symptoms of beta thalassemia and some kinds of alpha thalassemia commonly show after 6 months in babies. This is because neonates contain fetal haemoglobin, which is a distinct form of haemoglobin. After 6 months, "normal" haemoglobin begins to replace fetal haemoglobin, and symptoms may occur, which are as follows:

  • Sleepiness and exhaustion.
  • Jaundice and pale skin.
  • Chest pain.
  • Shortness of breath.
  • Rapid heartbeat. 
  • Delayed growth.
  • Dizziness and faintness.
  • Greater susceptibility to infection.
  • Skeletal deformities may result as the body tries to produce more bone marrow.
  • Iron may accumulate from blood transfusions. Excessive iron can harm the spleen, heart, and liver.

Diagnosis of Thalassemia

Thalassemia can be diagnosed by screening tests such as CBC (Complete Blood Count) or Hb Electrophoresis is usually done before marriage. 

Other tests include:

  • Genetic testing can show if you or your spouse have mutated genes. 
  • Chorionic villus sampling tests around the 11th week of pregnancy, test a piece of placenta.
  • Amniocentesis tests around the 16th week of pregnancy, test fluid around the fetus.

Thalassemia In Pakistan

Pakistan has one of the highest rates of thalassemia in the world. The number of transfusion-dependent thalassemia patients in the country is typically stated as 100,000. Every year, an estimated 9000 newborns with beta thalassemia are born in Pakistan, despite the lack of formal registration. The carrier rate is 6 % percent, resulting in 9.8 million carriers in the overall population.

Consanguineous marriages are relatively widespread in Pakistan due to the cultural and religious environment. Individuals with a family history of the disease are not screened or counselled before marriage. Antenatal diagnosis is also not generally provided. In the community, the notion of abortion is viewed as an ethical and religious issue.

The number of thalassemia patients in the country is thought to be rising in the lack of a unified national strategy and strategic plan, although the disease's actual impact is unknown. As a result, even though thalassemia is a preventable blood illness, its prevalence in Pakistan continues to rise, causing suffering to patients and their families. Furthermore, it places a significant demand on the already under-resourced and overburdened national health-care system, notably the blood-transfusion system. Patients with thalassemia get a considerable share of blood transfusions in Pakistan. The complications associated with blood transfusions are common in thalassemia patients, such as the prevalence of HIV, Hepatitis B and C.

There is a need to properly handle the thalassemia issue in Pakistan, as well as the resulting load on the country's national health care and blood transfusion infrastructures.

Treatment of Thalassemia

The kind and severity of thalassemia determine the treatment options.

Hemoglobin and red blood cell levels can be replenished through blood transfusions. People with thalassemia major will require eight to twelve blood transfusions each year. In times of stress, illness, or infection, those with less severe thalassemia may require up to eight transfusions per year or more.

The process of eliminating extra iron from circulation is known as iron chelation. Blood transfusions can sometimes result in iron excess. The heart and other organs may be harmed as a result of this.

Deferoxamine is a drug that is injected under the skin or into the muscle by doctors. They may also prescribe deferasirox, which is taken orally.

Supplementation with folic acid: People who get blood transfusions or chelation may require folic acid supplements.

Bone marrow transplants, also known as stem cell transplants, generate red and white blood cells, haemoglobin, and platelets. A transplant from a suitable donor may be a helpful therapy in extreme situations.

To address bone irregularities, surgery may be required.

Gene therapy is being researched as a treatment for thalassemia. Injecting a normal beta-globin gene into a patient's bone marrow or utilising medications to reawaken the genes that create foetal haemoglobin are two possibilities.


Thalassaemia is best handled conservatively, with all of its associated consequences eventually leading to death, unless a definitive therapy such as bone marrow transplantation is performed, which is out of reach for a substantial portion of the population. People with a severe form of Thalassemia only live up to 30 years. Only by informing the general public can the illness be prevented and morbidity and death reduced. As a result, the knowledge of the condition among parents of thalassaemic patients was assessed in this study.

Book your CBC or Hb Electrophoresis tests at Dr. Essa Lab now online on our website, visit the nearest branch or call at 021-111-786-986. 

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