"How to Check for Thalassemia?"

Update Date: Source: Network

Thalassemia: A Genetic Hemolytic Anemia

Thalassemia is a hereditary hemolytic anemia caused by mutations in globin genes. Patients typically manifest symptoms such as anemia and jaundice, which in severe cases can lead to complications like splenomegaly and hypersplenism. Several methods can be employed to screen for thalassemia, including:

  1. Complete Blood Count (CBC):

    By observing indicators like red blood cell count, hemoglobin concentration, and mean corpuscular volume, an initial assessment can be made regarding the presence of thalassemia. A decrease in red blood cell count and hemoglobin concentration may indicate thalassemia.

  2. Hemoglobin Electrophoresis Analysis:

    This method determines the type and severity of thalassemia by examining the ratio of different globin peptide chains. Abnormal results in hemoglobin electrophoresis suggest the possibility of thalassemia.

  3. Genetic Testing:

    Detecting mutations in globin genes within a patient's body can confirm the presence of thalassemia. Identifying specific mutation sites leads to a definitive diagnosis of thalassemia.

  4. Bone Marrow Aspiration:

    For patients suspected of having severe thalassemia, bone marrow aspiration is necessary. This procedure observes changes in red blood cell morphology, further confirming the diagnosis of severe thalassemia.

  5. Other Ancillary Tests:

    Examinations like liver function, kidney function, and electrocardiogram help rule out other potential diseases. Please note, these methods serve as references, and a comprehensive diagnosis requires consideration of clinical symptoms and other relevant test results.

If you suspect you have thalassemia, promptly seek medical attention and follow the guidance and treatment provided by a qualified physician.