Analysis of double heterozygous haemoglobinopathies from a tertiary care center in North India

Abstract

Background: Haemoglobinopathies and thalassemias are inherited conditions, being diagnosed with increasing prevalence in India. The double heterozygosity for α and β chain variants leads to the formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. Hematological parameters of double heterozygous conditions have not been analysed much in the literature. Methods: This study is a retrospective analysis of haemoglobin High Performance Liquid Chromatography (HPLC) from January 2006 to August 2014. Hematological parameters of these patients were also analysed and correlated with respective haemoglobin HPLC findings. Family screening of cases was also done wherever possible . Result: : Out of 6180 cases, 14 cases were found to be of double heterozygous with 10 cases of Hb E-β thalassemias, and 4 cases of Hb S-β thalassemias. In Hb E-β thalassemias, significant negative correlation was noted between haemoglobin and Red cell Distribution Width (RDW) and also between RDW and Red Blood Cell (RBC) count. In Hb S-β thalassemias, significant negative correlation was seen between Hb A2 level and RBC count. Conclusion: Although, haemoglobin chain disorders require combination of techniques, HPLC is a cost effective and powerful tool for characterization of these disorders. This study also highlights the importance of hematological parameters (Hb, RDW and RBC count) in elucidation of double heterozygous haemoglobinopathies from much commoner variants of haemoglobinopathies, particularly in under resourced areas. No similar studies correlating HPLC findings and RBC indices have been found in the literature. Although, haemoglobin chain disorders require combination of techniques, HPLC is a cost effective and powerful tool for characterization of these disorders. This study also highlights the importance of hematological parameters (Hb, RDW and RBC count) in elucidation of double heterozygous haemoglobinopathies from much commoner variants of haemoglobinopathies, particularly in under resourced areas. No similar studies correlating HPLC findings and RBC indices have been found in the literature. DOI: 10.21276/APALM.1352