Diagnosis of Beta-thalassaemia carriers in the sultanate of oman

Haemoglobinopathies are a major cause of morbidity in the Sultanate of Oman and premarital screening is being encouraged in order to reduce the number of affected births. The identification of β-thalassaemia carrier status is an essential prerequisite of any screening programme. However, the level of Haemoglobin (Hb) A(2), which is used to detect β-thalassaemia carriers, can be affected by other factors including iron deficiency, concurrent α thalassaemia and the type of DNA mutation present.

The following study was undertaken to ascertain if the Hb A(2) level is an appropriate tool for the identification of β-thalassaemia carriers in the Omani population.

Hb A(2) was measured by high performance liquid chromatography (HPLC) in 160 obligate carriers of β-thalassaemia. 158 subjects had Hb A(2) levels above 3.5% indicating β-thalassaemia trait. Two subjects had slightly lower levels and were found to be iron deficient. After therapy both these subjects' Hb A(2) levels increased to above 3.5%.

In the absence of iron deficiency, Hb A(2) is an accurate marker for the presence of β-thalassaemia trait in the Sultanate of Oman.