DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20213075

A clinico-haematological study of hereditary hemoglobinopathies: a tertiary care centre experience

Bhagyalakshmi Atla, Venkata Satya Kartheek Botta, Padmapriya Balakrishnan, Neelima Lalam, Anuradha Argi, Kirmani Natukula

Abstract


Background: Hemoglobinopathies are the cause of concern in India for not only its effect on the quality of life in patients but also for their inheritance patterns. Tribal population of Visakhapatnam district has a high chance of inheriting hemoglobinopathies due to their culture of consanguineous marriage. Aim and objectives of current study were to know the distribution of various abnormal haemoglobins in cases with clinical suspicion of hemoglobinopathies.

Methods: This hospital-based observational study was conducted for a period of 10 months in the department of pathology, Andhra Medical College, Visakhapatnam. A total of 151 cases with suspected hemoglobinopathies, their parents, and siblings were screened for the presence of hemoglobinopathies. 3ml of venous blood was collected to perform complete blood count, peripheral smear, reticulocyte count, sickling test and High Performance liquid chromatography (HPLC).

Results: In the present study, out of 151 cases, 55 cases (36.42%) were adults, and 96 cases (63.57%) cases were children. 67cases (44.37%) were asymptomatic and 84 (55.62%) were symptomatic. The most common symptom of subjects are fever (23 cases, 27.38%) and dyspnoea (22 cases, 26.19%). 85 cases (56.29%) had normal HPLC, and 66 cases (43.70%) had abnormal hemoglobin variants. The most common hemoglobinopathy detected by HPLC was sickle cell trait (36 cases, 23.84%) followed by homozygous sickle cell anemia 15 (9.93%). Other hemoglobinopathies detected were beta-thalassemia trait; 8 cases (5.29%) and compound heterozygous sickle beta-thalassemia 3 cases (1.98%).

Conclusions: Endemic areas for hemoglobinopathies has to be screened with HPLC along with complete hemogram in suspicious cases for the better diagnosis and management of the condition.


Keywords


Hereditary hemoglobinopathy, High performance liquid chromatography, Screening

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References


Kumar BM, Saikia M, Baruah A. Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: High performance liquid chromatography studies in 9000 patients. Indian J Pathol Microbiol. 2014;57:236-43.

Bittles AH, Black ML. Consanguineous marriage and human evolution. Annu Rev Anthropol. 2010;39:193-207.

Mondal SK, Mandal S. Prevalence of thalassemia and hemoglobinopathy in eastern India: A 10-year high-performance liquid chromatography study of 119,336 cases. Asian J Transfus Sci. 2016;10(1):105-10.

Babu STV, Manjula S. An incidence of beta- thalassemia in south india-a review. Int J Res Pharm Biosci. 2016;3(5):1-6.

Aggarwal R, Prakash A, Aggarwal M. Thalassemia: Anoverview. J Sci Soc. 2014:41:3-6.

Joseph N, Pai S, Sengupta S, Bharadwaj S, Dhawan S, Khare K. A clinic-epidemiological study of thalassemia cases in India. J Nat ScBiol Med. 2018;9:236-41.

Bhatia HM, Rao VR. Genetic atlas of Indian Tribes. Available at: https://catalogue.nla.gov.au/ Record/1171067. Accessed on 20 April 2021.

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;53:57-62.

Buch A, Iqbal B, Bordawekar R, Jain A, Jariwala P, Rathod H. Patterns of hemoglobinopathies diagnosed by high-performance liquid chromatography in and around Pune (Western Maharashtra, India): A pilot study. J Med Soc. 2016;30:111-5.

Bhokare SB, Phulgirkar PP, Joshi AR, Bindu RS. Spectrum of hemoglobinopathies by high performance liquid chromatography with special reference to role of HbA2 levels at tertiary care centre. Int J Res Med Sci. 2016;4:5269-76.

Gorakshakar AC, Colah RB. Cascade screening for b-thalassemia: a practical approach for identifying and counselling carriers in India. Indian J Community Med. 2009;34:354-6.

Sorathiya VP, Vachhani NA, Nandani SL, Vekariya DJ, Kashiyani HN, Colah RB. Experience with NESTROFT for screening for thalassemia trait/ minor: evaluation against CBC and HPLC in a high prevalence region in Saurashtra, Gujarat, India. Int J Res Med Sci. 2020;8:1108-13.

Khera R, Singh T, Khuana N, Gupta N, Dubey AP. HPLC in characterization of hemoglobin profile in thalassemia syndromes and hemoglobinopathies: a clinicohematological correlation. Indian J Hematol Blood Transfus. 2015;31(1):110-5.

Pant L, Kalita D, Singh S, Kudesia M, Mediratta S, Mittal M et al. Detection of Abnormal Hemoglobin Variants by HPLC Method: Common Problems with Suggested Solutions. Int Scho Res Notices. 2015;5:1-9.