From the Guidelines
The initial workup for suspected thalassemia should begin with a complete blood count (CBC) with peripheral blood smear, hemoglobin electrophoresis, and serum ferritin measurement. This approach is crucial for identifying the characteristic microcytic hypochromic anemia and distinguishing thalassemia from other causes of anemia, such as iron deficiency anemia 1. The CBC typically reveals reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH), while the peripheral blood smear may show target cells, microcytosis, and basophilic stippling.
Key Diagnostic Tests
- Hemoglobin electrophoresis is essential for identifying abnormal hemoglobin patterns characteristic of different thalassemia types.
- Serum ferritin measurement helps distinguish thalassemia from iron deficiency anemia.
- Additional tests may include quantitative hemoglobin A2 and F measurements, iron studies (serum iron, total iron-binding capacity), and genetic testing for specific mutations.
Management Strategies
- Management depends on the severity of the thalassemia but generally includes folic acid supplementation, avoidance of iron supplements unless concurrent iron deficiency is confirmed, genetic counseling for family planning, and regular monitoring of hemoglobin levels.
- For severe forms like beta-thalassemia major, chronic blood transfusions and iron chelation therapy with medications such as deferasirox, deferoxamine, or deferiprone may be necessary to improve quality of life and survival, as highlighted in the context of managing cardiac complications in thalassemia major 1.
Importance of Early Diagnosis
Early diagnosis is essential as it allows for the implementation of appropriate management strategies before complications develop, particularly in severe forms where regular transfusions and chelation therapy can significantly improve quality of life and survival.
From the Research
Initial Steps in Thalassemia Workup
The initial steps in the workup of a patient suspected of having thalassemia include:
- Suspecting thalassemia in patients with microcytic anemia and normal or elevated ferritin levels 2
- Performing hemoglobin electrophoresis to reveal common characteristics of different thalassemia subtypes 2, 3, 4
- Conducting genetic testing to confirm the diagnosis 2, 4, 5
- Obtaining a complete blood count, as well as hemoglobin electrophoresis or hemoglobin high performance liquid chromatography, including quantitation of HbA2 and HbF 3
- Investigating patients with microcytosis and/or hypochromia with a brilliant cresyl blue stained blood smear to identify H bodies, and performing a serum ferritin test to exclude iron deficiency anemia 3
Screening and Diagnosis
Screening for thalassemia and hemoglobinopathies should be offered to individuals at increased risk, including those from ethnic populations with a higher prevalence of these conditions 3
- Screening should ideally be done pre-conceptionally or as early as possible in pregnancy 3
- If a woman's initial screening is abnormal, her partner should also be screened 3
- If both partners are found to be carriers of thalassemia or an Hb variant, they should be referred for genetic counseling 3
- Prenatal diagnosis should be offered to pregnant women/couples at risk of having a fetus affected with a clinically significant thalassemia or hemoglobinopathy 3, 4
Classification and Diagnosis
Thalassemia diseases can be classified into transfusion-dependent thalassemia and non-transfusion-dependent thalassemia 5
- Definitive diagnosis of thalassemia and hemoglobinopathies requires a comprehensive workup, including complete blood count, hemoglobin analysis, and molecular studies to identify mutations of globin genes 5
- Alpha thalassemia is caused by reduced or absent synthesis of alpha globin chains, and beta thalassemia is caused by reduced or absent synthesis of beta globin chains 6