Endocrine Abstracts

Objective: To report a case of thalassemia major diagnosed per chance when investigated for undetectable HbA1C.

Clinical Presentation: A 2-year-old male patient presented with fever since 3 days and moderate pallor. His blood was sent to Biochemistry laboratory for the estimation of HbA1C. Later on it was found that there was no indication for this test in this case. When assayed, his haemoglobin (Hb)A_1C was not detectable on a BioRad D10 HPLC system.

Discussion: To find out the cause sample was analyzed for hemoglobin variants in the extended mode which eluted with 95.2% HbF and 4.1% Hb A2 and 0.3% HbA. The likely diagnosis was beta thalassemia major which was later confirmed by hemogram and electrophoresis. Because there is very less (0.3%) HbA, ion exchange HPLC will not detect glycated Hb in such individuals. There are several other factors that affect HbA_1C results such as homozygosity for HbE, carbamylated Hb, any condition that decreases RBC survival.

Conclusion: A patient with undetectable HbA1C should be investigated for hemoglobinopathy with very low HbA.