Types of Thalassemia

What is thalassemia : Types of thalassemia, Signs and Symptoms, Diet

World Thalassemia Day

The International Thalassemia Day (ITD) is marked annually on 8 May and it is devoted to raising awareness amongst the general public about thalassemia and helping the global thalassemia community to connect and call for changes towards the improvement of patients’ lives and well-being.

What is Thalassemia??

  • Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder.
  • Caused when the body doesn’t make enough of a protein called Hemoglobin, an important part of red blood cells.

Functions of Hemoglobin

  • Hemoglobin is the protein in red blood cells (RBCs) that carries oxygen from lungs to all tissues and organs.
  • It also plays a role in the transport of carbon dioxide from the tissues of the body back to the lungs.
  • The average adult male has about 1,000 mg of stored iron (enough for about three years).
  • Women on average have only about 300 mg (enough for about six months).

Types of Thalassemia

 Hemoglobin, which carries oxygen to all cells in the body, is made of two different parts, called alpha and beta.

  • When thalassemia is called “Alpha” or “Beta,” this refers to the part of hemoglobin that isn’t being made.
  • Low alpha is called Alpha thalassemia.
  • Low beta is called Beta-thalassemia.

Alpha thalassemia

Reduced or absent alpha-chain synthesis, generally there are 2 alpha gene loci on Chromosome 16 and therefore each individual carries 4 alpha gene alleles.

  • If one is deleted, there is no clinical effect.
  • If two are deleted, there may be mild hypochromic anemia.
  • If three are deleted, the patient suffers from Hemoglobin H disease.
  • If all four are deleted, the baby is stillborn (Hydrops fetalis)

Beta thalassemia

Failure to synthesize beta chain is the most common type of thalassemia.

Inheritance

  • Most people affected by Beta-thalassemia have mutations in both copies of the HBB gene in each cell.
  • The parents of an affected person usually each carry one mutated copy of the gene and are referred to as “Carriers”.
  • Carriers typically do not show signs or symptoms of the condition.
  • Some carriers of beta-thalassemia develop mild anemia.
  • The inheritance of Alpha thalassemia is complicated by the fact that mutations in two different genes (HBA1 & HBA2) are associated with the condition.
  • People have two copies of the HBA1gene and two copies of the HBA2 gene in each cell.
  • One copy is inherited from the mother and one is inherited from the father.
  • If each parent is missing at least one gene copy, their children are at risk for having alpha thalassemia.

Signs and Symptoms

  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Dark colour urine
  • More prone to infections
  • Enlarged spleen

Diagnosis

  1. CBC (Complete blood count)
  2. Reticulocyte count
  3. Iron levels
  4. DNA analysis

What should be included in diet-?

  1. Watermelons
  2. Dates
  3. Green leafy vegetables (Spinach, Brassica, etc. )
  4. Peanuts
  5. Walnuts
  6. Beans
  7. Pumpkin, Sesame, Flax seeds
  8. Mushrooms
  9. Olives
  10. Coconut water

Conclusion

With a proper diet and healthy mind, thalassemic patients can survive a longer life. Patients with mild thalassemia can expect a normal life expectancy.Patients with moderate or severe thalassemia have a good chance of long-term survival as long as they follow their treatment program (transfusions and iron chelation therapy).

Read Also: 5 Yoga Poses for Asthma Patients

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