Haemoglobinopathies: A Retrospective Study from a Tertiary Care Centre, Southern India
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 counselling which will help...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Pvt. Ltd.
2022-07-01
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| Series: | National Journal of Laboratory Medicine |
| Subjects: | |
| Online Access: | https://www.njlm.net/articles/PDF/2632/50636_CE[Ra1]_F(SHU)_PF1(AKA_SHU)_PFA(SHU)_PB(AKA_SHU)_PN(SHU).pdf |
| Summary: | 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 counselling 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 counselling.
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 counselling 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, β-thalassaemia
major was the most common haemoglobinopathy found in 75 patients,
followed by sickle cell anaemia in 10 patients. β-thalassaemia trait
was the most common haemoglobinopathy among the parents of
these children, which was found in 125 individuals.
Conclusion: β-thalassaemia major is the most common disorder
amongst the children with haemoglobinopathy, followed by
sickle cell anaemia. β-thalassaemia trait is a common entity
amongst the carriers of haemoglobinopathy. |
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| ISSN: | 2277-8551 2455-6882 |