A Study of Haemoglobinopathies and Haemoglobin Variants Using High Performance Liquid Chromatography (Hplc) in a Teaching Hospital of Odisha

Abstract

BACKGROUND Thalassaemias and haemoglobinopathies are highly prevalent in India. Identification of these disorders is important for epidemiologic purposes and for prevention of thalassaemia major and clinically severe haemoglobinopathies. The use of high performance liquid chromatography (HPLC) as a screening method for detection of these groups of disorder is increasing in last two decades. The aim is to study of thalassaemias and haemoglobinopathies using high performance liquid chromatography as a diagnostic tool in patients of a tertiary care hospital of Odisha. METHODS AND MATERIALS A total of 788 cases were included in the study. Samples were analysed on the BIO-RAD D-10 TM dual mode HPLC system. Personal history, family history, peripheral blood findings and sickling test result were correlated. Family studies were done whenever required and possible. However, secondary confirmatory tests were not done. Statistical analysis was done on Microsoft Excel. Continuous variables were expressed as mean ± SD. Categorical variables were expressed as frequencies and percentages. RESULTS Abnormal HPLC patterns were seen in 37.18% of cases. Sickle cell heterozygous (15.10%), sickle cell homozygous (9.90%) and βthalassaemia trait (6.10%) were the most common abnormalities found. Other patterns detected include β-thalassaemia major and intermedia, compound heterozygous state of HbS and β-thalassaemia, HbE trait, HbE disease, double heterozygous state of HbS and HbE, HbE and β-thalassaemia and HbS and hereditary persistent of foetal haemoglobin, HbD Punjab trait, Hb Lepore trait and HbH disease. CONCLUSION Sickle cell along with β-thalassaemias are the major abnormal haemoglobins in Odisha. Premarital and antenatal screenings are important measures to prevent birth of children with severe haemoglobin disorders. HPLC is a rapid and reliable technique for identification of various haemoglobin fractions.

Hemoglobin Variants in Patients With Microcytic Hypochromic Anemia: A Review of Indian Studies

“…The study by Alam et al [7], Shankar et al [12], and Jain et al [13] did not report the abnormal hemoglobins of Hb Q India, Hb J Meerut, Hb D Iran, Hb Lepore, and HPFH, respectively. Similarly, the studies by Alam et al [7], Raman et al [9], and Sarvaiya and Chauhan [10] have not reported the presence of Hb Q India, Hb J Meerut, and Hb D Iran.…”

“…The abnormal hemoglobin variants reported within the 14 studies and from this study for type and frequency are shown in Table 2. The commonest abnormal hemoglobin variant in all the studies was βTT and with a cumulative percentage of 42.6% [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. The last reported variant in the Indian population was Hb D Iran, with a percentage of 0.02% [1,5,6].…”

“…Biswas and Philip [ 8 ], in their study of 740 patients, reported two cases of Hb Q India and a single case of HPFH. Raman et al [ 9 ] reported a single case of Hb Lepore, and Sarvaiya and Chauhan [ 10 ] reported seven cases of HPFH. Warghade et al [ 11 ] reported 98 cases of HPFH, 50 cases of Hb Q India, and 46 cases of Hb J Meerut in their study of 12,131 patients.…”

“…The comparative reviews on hemoglobinopathies and hemoglobin variants in the context of the Indian subcontinent are not so frequent [9][10][11]. Therefore, the authors of this study decided to bring about a systematic review of hemoglobinopathies and hemoglobin variants reported from India [12][13][14].…”