"What Constitutes Mediterranean Anemia?"

Thalassemia: A Genetic Hemolytic Anemia

Thalassemia is a hereditary form of hemolytic anemia primarily caused by mutations in globin genes. Patients commonly experience symptoms such as fatigue, dizziness, palpitations, and in severe cases, may develop jaundice and splenomegaly. As a genetic disorder, thalassemia arises from mutations in globin genes.

Normally, individuals possess four types of globin genes, comprising two each of the α-chain and β-chain genes. However, in thalassemia patients, one or more of these globin genes may be absent, leading to reduced or absent synthesis of globin peptide chains within red blood cells. This results in shortened red blood cell lifespan, ultimately causing hemolytic anemia.

The clinical manifestations of thalassemia encompass fatigue, dizziness, palpitations, and hepatosplenomegaly. Mild cases may remain asymptomatic, only detected during routine medical examinations, whereas severe cases can manifest with symptoms like jaundice and splenomegaly. Patients may also exhibit delayed growth and development, along with increased susceptibility to infections.

For patients diagnosed with thalassemia, proactive treatment is essential. Therapeutic approaches include blood transfusions, iron chelators, and hematopoietic stem cell transplantation. Additionally, patients should prioritize rest, avoid strenuous activities and overexertion, maintain a positive mindset to prevent excessive emotional fluctuations, and adhere to a balanced diet to ensure adequate nutrition intake.

If you suspect you may have thalassemia, it is crucial to seek medical attention promptly and undergo relevant tests and diagnoses as advised by your healthcare provider. Early detection and timely treatment of thalassemia are vital to preserving patients' health and well-being.