Alpha Thalassemia Test

Alpha thalassemia is a hereditary hemoglobin (the molecule inside red blood cells that carries oxygen to tissues) disorder that does not usually present clinical symptoms, but can lead to death in the womb or severe anemia after birth. If there is a genetic defect in the beta chain of hemoglobin, it is called beta thalassemia, while a defect in the alpha chain is called alpha thalassemia. It is also known as HbH or Hb Bart’s hydrops. Sometimes, patients with alpha thalassemia who carry one or two gene mutations can survive with a mild condition. They may live with mild to moderate anemia, while others require constant transfusion. Hb Bart’s syndrome requires transfusion in utero or immediately after birth. These individuals are kept alive through bone marrow transplantation or continuous transfusion.
The synthesis of hemoglobin involves the production of Gower-1, Gower 2, and Portland chains in intrauterine life at the 8th week. Fetal hemoglobin is produced after the 9th week. After birth, fetal hemoglobin decreases, and after 6 months, the entire hemoglobin is formed. In adults, 95% of hemoglobin is HbA (2 alpha, 2 beta chains), 2-3% is Hb A2 (2 alpha, 2 gamma chains), and less than 1% is HbF (2 alpha, 2 sigma chains). This is the normal structure of hemoglobin.
Alpha + thalassemia is a silent carrier, alpha 0 thalassemia is a severe carrier, and Hb Bart’s hydrops fetalis and HbH disease are the most significant and dangerous forms.
Interpretation:Hemoglobin electrophoresis is used for testing. The presence of the HbH band is detected during electrophoresis to make the diagnosis.
Sample: Arm venous plasma (EDTA). Nonfasting
Working day: Wednesday, Friday
Result Time: Next day at 6 pm