How is it Diagnosed?
Thalassemia is a hereditary blood disorder marked by defective hemoglobin production,
leading to anemia of varying severity. Diagnosis begins with a thorough clinical
evaluation, focusing on signs such as pallor, fatigue, jaundice, hepatosplenomegaly, and
growth delays in children.
Initial laboratory investigations include a complete blood count (CBC), which often
reveals microcytic, hypochromic anemia with low mean corpuscular volume (MCV) and
mean corpuscular hemoglobin (MCH). A peripheral blood smear typically shows target
cells, anisopoikilocytosis, and nucleated red blood cells. Serum iron and ferritin levels
are usually normal or elevated, which helps differentiate thalassemia from irondeficiency anemia.
Hemoglobin electrophoresis is the key diagnostic test. It identifies abnormal hemoglobin
variants (like HbA2 or HbF), confirming beta-thalassemia trait or major. In alphathalassemia, electrophoresis may be normal, especially in silent carriers or trait; in such
cases, DNA analysis for alpha-globin gene deletions is necessary.
Family history and ethnic background can support suspicion, as thalassemia is more
prevalent in individuals from the Mediterranean, Middle East, South Asia, and Africa.
Genetic counseling and prenatal diagnosis using chorionic villus sampling or
amniocentesis are crucial in families with known mutations.
In conclusion, the diagnosis of thalassemia relies on clinical features, hematologic
indices, hemoglobin electrophoresis, and genetic testing to determine the type and
severity of the disease.