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Signs and symptoms of Thalassemia

Thalassemia causes a considerable health problem in India that significantly contributes to morbidity and mortality. Many studies have reported that in India there is an overall prevalence of around 75 to 100 thousand new cases of Thalassemia each year. The highest prevalence of Beta- Thalassemia traits in different major states of India have shown about 7.55% cases in Gujarat, 6.5% cases in Punjab, 5.5% in Delhi, and 4.2% in Calcutta. As per current Indian scenario, at least 14.2 Million units of blood are required per year. A total therapy cost of a child per year is reported around Rs 2 lakhs per year.

What is Thalassemia?
Thalassemia is known as a genetic blood disorder in which a patient is unable to produce enough Red Blood Cells or produce an abnormal form of hemoglobin. Such patients need to be supplemented with regular RBC transfusions every 2-3 weeks to survive and stay healthy. Thalassemia patients are more prone to suffer from anemia, leaving them fatigued. If both of parents are suffering from thalassemia, then they have a greater chance of inheriting a more serious form of Thalassemia to their children. Therefore prevention is the best remedy to control the further prevalence of this disease.

Thalassemia has mainly three types- alpha thalassemia, beta thalassemia, and thalassemia minor. Beta-thalassemia is the main causative type.

Alpha Thalassemia
The alpha thalassemia occurs when one or more of the four alpha-globin genes located on chromosome 16 that help to produce hemoglobin are missing or damaged. Alpha Thalassemia has following sub-types:

  • Silent Carrier: Only one gene is affected or muted. Such patients may appear healthy but they remain a carrier of the disease and can pass it on to their children.
  • Alpha-thalassemia trait: Here two genes are affected. Such patients often have the hemoglobin of 7-9 g/dl. They may require blood transfusion only at times when their Hb drops with any stress or infection in the body.
  • Hemoglobin H disease: There are 3 mutated genes. Signs and symptoms are moderate to severe.
  • Alpha Thalassemia major: This is a rare type having 4 mutated genes. Babies born with this condition usually die due to anemia, shortly after birth. They may require a lifelong transfusion therapy along with Iron chelation therapy.

Beta thalassemia
Beta thalassemia usually occurs when the body is unable to produce beta globin. It comes in two serious subtypes, such as- Thalassemia major and Thalassemia intermedia.

  • Beta-Thalassemia major- It is the most serious type and generally develops when beta-globulin genes are muted or missing. Its symptoms generally appear before the second birthday of a child. This condition has a high prevalence of causing severe anemia, so it may become life-threatening.
  • Beta-Thalassemia Intermedia
  • It is comparatively less severe form, occurs due to modifications or absence of both beta globulin genes. Patients suffering from this condition don’t need a blood transfusion.

Thalassemia minor
These patients don’t usually appear normal or likely to be minor anemia. This condition is classified as Alpha or Beta thalassemia minor. In Alpha thalassemia minor, two genes are missing. In beta- thalassemia minor, one gene is missing.

Signs and Symptoms
Key signs and symptoms in severe cases may include:

  • Exhaustion, Fatigue or Weakness
  • Yellow or pale skin
  • Frequent infections
  • Poor appetite
  • Enlarged organs
  • Facial bone deformities
  • Slow body growth
  • Swelling in abdomen
  • Dark urine

A person should go for getting tested if one of his/her parents or relative has some kind of Thalassemia.

Risk and complications:
Following factors may increase the risk of thalassemia such as:

  • Family history: Thalassemia can be genetically transferred from parents to children. Therefore, a person has a family history of thalassemia, may have an increased risk to get affected with the condition.
  • Geographical Inheritance: Thalassemia mostly affects people of African-Americans, Mediterranean, and Southeast Asian ancestry.

Major complications of thalassemia include:

  • Overloading of Iron: Thalassemia patients can store too much iron in their bodies, either due to the disease or from repeated blood transfusions. This excessive storage of iron is harmful to heart, liver and endocrine system.
  • Infection: Thalassemia patients have a greater risk of getting affected with an infection, especially when their spleen is removed.

Diagnosis
Following tests are performed to confirm Thalassemia:

  • A complete blood count (CBC).
  • Gene testing to analyze specific genes that cause thalassemia.
  • Blood iron level test.
  • Hemoglobin electrophoresis test helps to separate out the different molecules in the RBCs to identify the abnormal type.

Treatment

The treatment depends on the severity and type of disease involved.

Various treatments options include:

  • Blood transfusion
  • Medications and supplements
  • Bone marrow transplant
  • Surgery to remove the spleen or gallbladder

While receiving a blood transfusion, patients may also require chelation therapy. A chelation therapy generally involves injecting a measured dose of a chemical that binds to iron and helps to excrete extra iron from your body.

Thalassemia is hard to treat genetic condition, but it can be easily controlled and prevented to spread further. So, it should be the collective and moral responsibility of all Indian people to give their best cooperation to prevent and control Thalassemia.

So, if you are about to be married or just married, you should visit us at Shah Hospital to get yourself tested for Thalassemia.

Your current wise decision can give you happiness for the whole life.