Anemia in thalassemia

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.

Last modified
29 December 2018
Feature

An unusual lightness of skin colour as compared to the normal complexion is defined as pallor. Paleness may be caused by reduced blood flow and oxygen...

Rare Condition

Thalassemia major or Beta Thalassemia

The thalassemias are a group of genetically (inherited) blood disorders that share in common one feature; the defective production of hemoglobin which is the protein...

Disease

Medical treatment hemoglobinopathy

Increased expression of fetal hemoglobin (HbF) may...