"How to Confirm the Presence of Thalassemia?"

Thalassemia Diagnosis and Management

Thalassemia is a genetic disorder that requires diagnosis based on individual symptoms, family history, and relevant medical examinations. If you suspect you may have thalassemia, it is recommended to seek medical attention promptly for diagnosis.

1. Symptoms

Typical symptoms of thalassemia include pallor, fatigue, dizziness, lightheadedness, palpitations, and shortness of breath. Patients may also experience splenomegaly (enlarged spleen) and jaundice. The presence of these symptoms should raise awareness of the possibility of thalassemia.

2. Family History

As thalassemia is a genetic disorder, individuals with a family history of the disease, particularly if a parent or sibling is affected, have an increased risk. If there is a similar family history, the possibility of thalassemia should be considered.

3. Laboratory Tests

Blood routine tests can reveal decreased red blood cell count and hemoglobin levels, along with increased mean corpuscular volume (MCV) and mean corpuscular hemoglobin concentration (MCHC). Additionally, genetic testing for thalassemia, such as globin gene mutation screening, can confirm the diagnosis of thalassemia.

4. Imaging Examinations

For patients suspected of having severe complications, such as hemolytic crises or hypersplenism, abdominal ultrasound can be performed to assess spleen size and morphology, as well as to rule out other conditions. Upon confirmation of thalassemia, active treatment and management are essential.

Treatment Options

Treatment modalities encompass blood transfusions, medication therapy, and surgical interventions. Moreover, maintaining a healthy diet, improving lifestyle habits, and fostering a positive mindset contribute significantly to disease management and recovery.