Original article / research
2022
Year : 2022 Month : July Volume : 11 Issue : 3 Page : PO17 - PO20 Full Version

Haemoglobinopathies: A Retrospective Study from a Tertiary Care Centre, Southern India

Published: July 1, 2022 | DOI: https://doi.org/10.7860/NJLM/2022/50636.2632
Hemalata Lokanatha, Pradeep Rudramurthy
1. Professor, Department of Pathology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India. 2. Associate Professor, Department of Pathology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
 
Correspondence Address :
Hemalata Lokanatha, Pradeep Rudramurthy,
Pradeep Rudramurthy,
1905 South End C Road Jayanagar 9th Block, Bangalore, Karnataka, India.
E-mail: docpradi@gmail.com
 
ABSTRACT
: Introduction: Thalassaemia and other structural haemoglobinopathies are the major genetic disorders that cause significant morbidity in children. Haemoglobinopathies need to be diagnosed at the earliest in order to offer suitable treatment, carrier identification and counseling which will help to decrease the incidence of haemoglobinopathies.

Aim: To study the clinicohaematological spectrum of children with thalassaemia and other haemoglobinopathies, followed by family screening and counseling.

Materials and Methods: This retrospective cross-sectional study was taken up at Department of Pathology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India from January 2018 to December 2020, during which records of 235 cases were studied, out of which 100 were the children visiting institute and 135 were the parents and siblings of these children. Diagnosis of these cases was followed by counseling for these families. Results were calculated by data analysis. Percentages were calculated from the frequency of the variables.

Results: Amongst the records of 235 cases studied, ß thalassaemia major was the most common haemoglobinopathy found in 75 patients, followed by sickle cell anaemia in 10 patients. ß thalassaemia trait was the most common haemoglobinopathy among the parents of these children, which was found in 125 individuals.

Conclusion: ß thalassaemia major is the most common disorder amongst the children with haemoglobinopathy, followed by sickle cell anaemia. ß thalassaemia trait is a common entity amongst the carriers of haemoglobinopathy.
Keywords : Clinicohaematological profile, Family screening, Haemoglobin electrophoresis, Thalassaemia
DOI and Others : DOI: 10.7860/NJLM/2022/50636.2632 Date of Submission: Jun 02, 2021 Date of Peer Review: Jul 02, 2021 Date of Acceptance: Dec 09, 2021 Date of Publishing: Jul 01, 2022 AUTHOR DECLARATION: • Financial or Other Competing Interests: None • Was Ethics Committee Approval obtained for this study? Yes • Was informed consent obtained from the subjects involved in the study? Yes • For any images presented appropriate consent has been obtained from the subjects. Yes PLAGIARISM CHECKING METH
 
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