Title: Study of Haematological Profile of Thalassemia Patients With Reference To High Performance Liquid Chromatography
Authors: Huma Khan, Juned Shaikh, Neela Kumbhakarna
DOI: https://dx.doi.org/10.18535/jmscr/v4i11.120
Abstract
Study of Haematological Profile of Thalassemia Patients With Reference To High Performance Liquid Chromatography
Objective: Beta thalassemia and their interaction with structural HbS and HbE variants are major public health problem in India. This study was carried out to assess the usefulness of HPLC in diagnosis of thalassemia patients and its variants.
Methodology: 209 thalassemia cases during 2.4 year period were investigated.CBC, peripheral smear, reticulocyte count, fetal fraction, sickling tests, HbF, HbA2, HbA0, HbE; HbS levels were estimated using BIORAD variant automated HPLC technique.
Results: Out of 209 cases, thalasssemia trait was the most common followed by thalassemia major, HbSβ thalassemia trait, HbEβ thalassemia trait, thalassemia intermedia, δβ thalassemia trait. Buddha community (34.93%) was the most common ethnic group. Consanguinity of 21.53% was observed. The various haemoglobin levels were studied in these groups.
Conclusion: HPLC was found to be simple, rapid and reliable method for detection of thalassemia. Consanguinity of 21.53% highlights the role of premarital counselling in thalassemia patients especially in Buddha and Muslim communities. This emphasises the need of community based targeted awareness, counselling and field work in these cases which is possible by using HPLC.
Keywords: Thalassemia, HPLC, HbS, HbE.
References
1. Galanello R, Origa R. Beta-thalassemia. Orphanet Journal of Rare Diseases.2010 May 21; 5:11.
2. Manglani M, Lokeshwar MR, Vanis VG, Bhatia N, Mhaskar V. 'NESTROFT'--an effective screening test for beta thalassemia trait. Indian Pediatrics.1997 Aug; 34(8):702-7
3. Colah RB, Surve R, Sawant P, D'Souza E, Italia K, Phanasgaonkar S et al.HPLC studies in hemoglobinopathies.Indian Journal of Pediatrics. 2007 July; 74(7): 657-62
4. Rangan A, Handoo A, Sinha S, Saxena R, Verma IC, Kumar S et al. Utility of family studies in diagnosing abnormal hemoglo-bins/ thalassemic states. Indian Journal of Pediatrics. 2009 June; 76(6):615-21
5. Sachdev R, Dam AR, Tyagi G. Detection of Hb variants and hemoglobinopathies in Indian population using HPLC: report of 2600 cases. Indian J Pathol Microbiol.2010 Jan-Mar; 53(1):57-62
6. Rao S, Kar R, Gupta SK, Chopra A, Saxena R. Spectrum of haemoglobin-pathies diagnosed by cation exchange-HPLC & modulating effects of nutritional deficiency anaemias from north India. Indian J Med Res. 2010 Nov; 132:513-9
7. Patel J, Patel A, Patel J, Kaur A, Patel V.Prevalence Of Haemoglobinopathies In Gujarat, India: A Cross-Sectional Study. The Internet Journal of Hematology.2009; 5(1).
8. Ambekar SS, Phadke MA, Mokashi GD, Bankar MP, Khedkar VA, Venkat V, Basutkar DG. Pattern of haemoglobin-opathies in western Maharashtra.Indian Pediatr.2001 May; 38(5):530-4
9. Shah Sejal J, Chauhan Sanjay C, Rathod Hitesh K, Patel Amul B, Sharma Vaibhavi Y.A profile of cases of hemoglobino-pathies at a Medical college. National Journal of Medical Research.2012 Apr– June; 2(2):137-140
10. Baig SM, Azhar A, Hassan H, Baig JM, Aslam M, Ud Din MA, Qureshi JA, Zaman T.Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan.Prenat Diagn. 2006 Oct; 26(10):903-5
11. Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F et al. Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.Blood.1988 Sep; 72(3):1007-14
12. Chandrashekar V, Soni M.Haemoglobin disorders in South India.ISRN Hematol.2011; 2011:1-6
13. Fucharoen S, Winichagoon P, Wisedpanichkij R, Sae-Ngow B, Sriphanich R, Oncoung W et al.Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC.Clin Chem. 1998 Apr; 44(4):740-8
14. Jha BM, Bhavna Gamit, Jitendra Patel, Prajapati KJ. Hemoglobin E disorders in South Gujarat: A study of 35 cases. Nat J Comm Med. 2012; 3(1):66–70.
15. Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R, Giordano P et al. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur J Hum Genet. 2015 Apr; 23(4):426-37.doi: 10.1038/ejhg.2014.131. Epub 2014 Jul 23.