Pattern Analysis of the Hemoglobin Variants in Western India by HPLC: Strategies and Practical Implication for Pursuing Rare Hemoglobins

Aims: The aim of the present study was to determine the common Hb disorders in patients of a tertiary care hospital of Rajasthan, India.

Study design: This was a retrospective study which included high performance liquid chromatography (HPLC), clinical history, hematological parameters and family studies to reach an accurate diagnosis.

Place and Duration of Study: This study was conducted in the Advanced Hematology & HLA Laboratory, Department of Pathology of a tertiary care center in rajasthan over a period of 5 years from January 2015 to December 2019.

Methodology: A retrospective study was undertaken in which 2789 patients were included. A detailed clinical history and family history were obtained from each patient. Blood samples were analyzed for complete blood counts. HPLC was performed on the samples with BIORAD VARIANTTM-II using beta thalassemia short program.

Results: Out of 2789 patients (1538 males and 1251 females), normal hemoglobin (Hb) pattern was observed in 1931 (69.2%) cases and abnormalities were detected in 858 (30.8%) patients. β (beta) thalassemia heterozygous was the most common abnormality found in 586 (21%) patients, thalassemia homozygous in 149 (5.3%) cases followed by HbE heterozygous in 21 (0.7%) & Sickle cell trait in 20 (0.7%) patients. Other variants detected included Eβ thalassemia, Hb D Punjab trait, HbE disease, sickle cell disease, Hb lepore, hereditary persistence of fetal hemoglobin (HPFH), sickle‑β thalassemia, double Heterozygous for Beta Thalassemia & Hb D Punjab, Sickle cell Trait & Hb D Punjab and many more. One (0.04%) rare case of Hb Burke was also detected.

Conclusion: In India, where β thalassemia trait is so rampant, premarital and antenatal screening should be mandatory to prevent birth of off springs with β thalassemia major. HPLC is a rapid and reproducible technique for determination of different Hb variants.