What does my wife's Hb electrophoresis report indicate?

Haemoglobin (Hb) is the oxygen carrying protein present in our red blood cells. It is made up of an iron containing haeme molecule surrounded by a protein called globin. Each Hb molecule contains two pairs of globin chains, called alpha (a) and non-alpha - (beta [b], gamma [g], delta [d]) chains. Any defect in the amount or structure of the globin chains can give rise to abnormal haemoglobins and disease states referred to as thalassemias-hemoglobinopathies. An adult normally has the following types of haemoglobins present in blood:

• Hb A – made up of 2 alpha & 2 beta globin chains (a2b2) : 95% of total Hb
• Hb A2 – made up of 2 alpha & 2 delta globin chains (a2d2) : 3% of total Hb
• Hb F – made up of 2 alpha & 2 gamma globin chains (a2g2) : 1-2% of total Hb

Normally we have 2 copies of Hb A gene (Hb A/A). Hb E is an abnormal haemoglobin with a mutation in the b-globin chain. If only one gene is affected it results in Hb A/E (called HB E trait) which is asymptomatic. If both copies are abnormal, it results in Hb E/E and such patients are usually anaemic (have low Hb) and have an enlarged spleen. Please get yourself and your children tested by HPLC as the combination of Hb E with another abnormal haemoglobin can give rise to severe disease. No treatment is required for your wife.