Anemia as a symptom of Thalassemia major.
Children with Thalassemia Major present with anemia around the age of 4-5 months. While the normal total Hb should be around 9-10 gr/dl it drops to 3-6 gr/dl in thalassaemia major.
This happens because normally, at the age of about 6 months the fetal hemoglobin (hemoglobin F, HbF, or α2γ2) is replaced by the more common adult hemoglobin: Hemoglobin A (α 2β2) ( > 90 %) and in a smaller proportion Hemoglobin A2 (α2δ2)< 3,4 % , less than 1% of HbF remains. When there is mutation of the β-thalassemia gene the β globin- chain is not produced and there will be a disequilibrium of the normal Hemoglobin distribution.
High performance liquid chromatography (HPLC) is the test to distinguish hemoglobinopathies, which could be used easily in reference and routine laboratories for diagnosing hemoglobinopathies and more specifically thalassemia major.
Other tests that should be performed are:
Complete blood count including erythrocytes, leucocytes, platelets , hemoglobin, hematocrit, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). When erythrocytes, hemoglobin and hematocrit are lower than normal, anemia is seen.
In Thalassemia erythrocytes are small and MCV is low.
Similar results may indicate iron deficiency. In case of the latter serum ferritin will be low.