Thalassemia and Hemoglobinopathy Screening By HPLC Method and Comparison With Conventional Methods

Abstract

Background Thalassemia and hemoglobinopathies are heterogeneous group of inherited disorders that affects men and women equally. HPLC is a valuable method for hemoglobinopathy and/or thalassemia carrier screening. This study evaluate the role of cation exchange HPLC along with adjunctive tests as needed in the diagnosis of thalassaemias/haemoglobinopathies and to see the frequency of these disorders in the Iranian population. Methods This five-year study was conducted on 3780 patients. Initially complete blood count was done by autoanalyzer and then for detection of abnormal hemoglobins HPLC and HB electrophoresis methods was used. In cases with low MCV and MCH indices (MCV<80 fl,MCH<27 pg) and Hb-A2< 3.5% and normal Hb-electrophoresis, α-thalssemia trait(αα/--)was considered in the list of differential diagnosis. In cases with low MCV for exclusion of iron deficiency serum ferritin was meseared. Results Our rerults revealed that 1932 (51.11%) had normal electrophoretic pattern, 781 (20.66%) had β-thallasemia trait and 487(12.84%) had β-thallasemia major or intermedia,328( 8.67% ) had normal electrophoresis along with iron deficiency and 142 ( 3.75%) had normal Hb -electrophoresis and normal iron status but low MCV and MCH indices.We also identified 11(0.29%) with Alpha thalasemia variants Hb-H disease/alpha trait and 22(o.58%)with sickle trait and 18(o.47%)with sickle disease and 9(0.23%) S-Thal double heterozygote and 5(0.13%) with E- trait and 32(0.84%) with Hb-D variant and 1(0.026%) with heterozygote Hb-C variant and 5(0.13%) with Hb-D Iran and 1(0.026%) with Hb-J trait and 1(0.026%) Hb-S/D double heterozygote, and 1(0.026%) with Hb-D/J double heterozygote and 1(0,026%) with Hb-constant spring/ HB-H double heterozygote. Conclusion HPLC is a fast and reliable method in clinical laboratories specially in premarital, and neonatal screening laboratories. Disclosures: No relevant conflicts of interest to declare.