What Causes Thalassemia?

Thalassemia is a group of inherited blood disorders characterized by the body’s inability to produce sufficient hemoglobin, the essential protein responsible for carrying oxygen in the blood. This condition leads to a reduced number of red blood cells and lower oxygen delivery to the body's tissues and organs, resulting in symptoms like fatigue, weakness, and in severe cases, life-threatening complications.

Globally, thalassemia affects millions of people, but it is particularly prevalent in regions such as the Mediterranean, the Middle East, and South Asia. In Pakistan, the situation is critical, with approximately 5% of the population being carriers of the thalassemia gene.

Genetic Causes of Thalassemia

The primary cause of thalassemia is genetic mutations that reduce hemoglobin production. These mutations can occur in the alpha or beta-globin genes, leading to two main types of thalassemia:

• Alpha Thalassemia:
  • Cause: Results from deletions or mutations in the alpha-globin genes. Each person has four alpha-globin genes (two from each parent).
  • Symptoms: The severity of anemia can vary based on how many of the four genes are affected. Mild symptoms can occur if one or two genes are affected, while more severe forms, such as Hemoglobin H disease, can occur when three genes are affected. If all four genes are affected, it typically leads to a fatal condition known as hydrops fetalis.
• Beta Thalassemia:
  • Cause: Caused by mutations in the beta-globin gene. Each person has two beta-globin genes (one from each parent).
  • Symptoms: Like alpha thalassemia, the severity of anemia can vary.
  • Beta Thalassemia Minor: Involves a mutation in one of the two beta-globin genes, resulting in mild anemia and generally no treatment needed.
  • Beta Thalassemia Major: Involves mutations in both beta-globin genes, leading to severe anemia that usually requires regular blood transfusions for management.

Understanding these genetic causes are crucial for early detection and intervention, especially in communities with a high prevalence of thalassemia.

How Thalassemia is Inherited

Thalassemia is inherited in an autosomal recessive manner. This means that a child be inherited a mutated gene from both parents to develop the condition. If a child receives a mutated gene from only one parent, they will become a carrier thalassemia minor (trait) but will not exhibit any symptoms of the disease.

In Pakistan, where the carrier rate is about 5%, genetic counseling plays a vital role in educating individuals and families about their risks and the implications for future generations.

Risk Factors for Thalassemia

Certain populations are at a higher risk for thalassemia, including:

• People of Mediterranean descent (e.g., Greece, Italy)
• Individuals from Southeast Asia (e.g., Thailand, Cambodia)
• Those of African descent
• South Asians, including individuals from Pakistan, India, and Bangladesh, have a significantly higher prevalence of thalassemia.

Family history of thalassemia or being a carrier increases the likelihood of passing the trait to offspring. In Pakistan, thalassemia is a major public health concern, with an estimated 100,000 children born with the disease every year.

Impact of Thalassemia in Pakistan

Thalassemia poses a significant health burden in Pakistan, affecting not only the individuals diagnosed with the condition but also their families and the healthcare system. The need for regular blood transfusions and medical care can drain resources, particularly in underserved areas.

Public awareness campaigns and screening programs are essential to identify carriers and reduce the incidence of thalassemia. Initiatives aimed at promoting prenatal screening can help prospective parents make informed choices about family planning and genetic counseling.

Conclusion

Understanding the causes of thalassemia is vital for awareness and early intervention. Genetic counseling is highly recommended for individuals with a family history of thalassemia to understand their risks and options for management. By increasing awareness and promoting screening, we can help reduce the impact of thalassemia in Pakistan and improve the quality of life for those affected by this condition.

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