Spectrum of Haemoglobinopathies: A Hospital Based Study in Uttarakhand
Introduction: Haemoglobinopathy is a worldwide inherited problem as recognized by WHO and care of affected patients incurs heavy expense on the limited resources of developing countries. There is a need for prevention of births of children with clinically significant haemoglobinopathies by popul...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2017-12-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/10947/31731_CE(RA1)_F(T)_PF1(AG_TG_AP)_PFA(MJ_AP)_PFA2(MJ_GG).pdf |
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| author | Shivani Nayar Seema Acharya Rajiv Acharya Sanjeev Kishore Brijesh Thakur |
| author_facet | Shivani Nayar Seema Acharya Rajiv Acharya Sanjeev Kishore Brijesh Thakur |
| author_sort | Shivani Nayar |
| collection | DOAJ |
| description | Introduction: Haemoglobinopathy is a worldwide inherited
problem as recognized by WHO and care of affected patients
incurs heavy expense on the limited resources of developing
countries. There is a need for prevention of births of children
with clinically significant haemoglobinopathies by population
screening. Cation Exchange-High Performance Liquid
Chromatography (CE-HPLC) has emerged to be a simple
and precise method to quantify HbA2
, HbF and other variant
haemoglobins with certain limitations. Most of the variant
haemoglobins can be identified by their retention times,
percentages and peak characteristics.
Aim: The present study was undertaken to assess the prevalence
and spectrum of various haemoglobinopathies in patients
reporting to a tertiary health care centre in Uttarakhand, India.
Materials and Methods: This was a prospective study
conducted on 8144 samples. RBC indices were obtained by
sysmex XP 100. CE-HPLC was performed on Biorad D10.
The variant haemoglobins were identified on the basis of their
percentages, retention times and peak characteristics. Peripheral
blood film, reticulocyte count, HbH inclusion and sickling
test were done in selected cases. Continuous variables were
expressed as mean±SD. Categorical variables were expressed
as percentages.
Results: Antenatal population formed the bulk of the 8144 cases
enrolled in this study. Haemoglobinopathy was seen in 5.9%
of the cases with β thalassaemia trait being the commonest
abnormality (2.82% of cases). HbD (Punjab) trait was the
commonest variant haemoglobin encountered in the study
population. There was a significant difference in percentages of
variant fractions between compound heterozygotes and variant
traits.
A presumptive diagnosis of alpha thalassaemia trait was
rendered based on RBC indices, iron profile and chromatogram
study. Molecular studies were recommended in 81 cases with
borderline increase in HbA2
levels to rule out silent mutations.
Conclusion: A reasonably high frequency (5.9%) of
haemoglobinopathies warrants a routine antenatal screening of
total population. An accurate diagnosis can be made in majority of
cases by haematological parameters, CE-HPLC chromatograms,
cascade screening for haemoglobinopathies and spouses of
antenatal cases positive for haemoglobinopathy. |
| first_indexed | 2024-12-11T22:21:03Z |
| format | Article |
| id | doaj.art-d03b98d21d1549ffb4063370225ae99a |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-11T22:21:03Z |
| publishDate | 2017-12-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-d03b98d21d1549ffb4063370225ae99a2022-12-22T00:48:27ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2017-12-011112EC18EC2110.7860/JCDR/2017/31731.10947Spectrum of Haemoglobinopathies: A Hospital Based Study in UttarakhandShivani Nayar0Seema Acharya1Rajiv Acharya2Sanjeev Kishore3Brijesh Thakur4Junior Resident, Department of Pathology, SGRRIM and HS, Dehradun, Uttarakhand, India.Professor, Department of Pathology, SGRRIM and HS, Dehradun, Uttarakhand, India.Professor, Department of Obstetrics and Gynaecology, SGRRIM and HS, Dehradun, Uttarakhand, India.Professor and Head, Department of Pathology, AIIMS, Rishikesh, Uttarakhand, India.Associate Professor, Department of Pathology, SGRRIM and HS, Dehradun, Uttarakhand, India.Introduction: Haemoglobinopathy is a worldwide inherited problem as recognized by WHO and care of affected patients incurs heavy expense on the limited resources of developing countries. There is a need for prevention of births of children with clinically significant haemoglobinopathies by population screening. Cation Exchange-High Performance Liquid Chromatography (CE-HPLC) has emerged to be a simple and precise method to quantify HbA2 , HbF and other variant haemoglobins with certain limitations. Most of the variant haemoglobins can be identified by their retention times, percentages and peak characteristics. Aim: The present study was undertaken to assess the prevalence and spectrum of various haemoglobinopathies in patients reporting to a tertiary health care centre in Uttarakhand, India. Materials and Methods: This was a prospective study conducted on 8144 samples. RBC indices were obtained by sysmex XP 100. CE-HPLC was performed on Biorad D10. The variant haemoglobins were identified on the basis of their percentages, retention times and peak characteristics. Peripheral blood film, reticulocyte count, HbH inclusion and sickling test were done in selected cases. Continuous variables were expressed as mean±SD. Categorical variables were expressed as percentages. Results: Antenatal population formed the bulk of the 8144 cases enrolled in this study. Haemoglobinopathy was seen in 5.9% of the cases with β thalassaemia trait being the commonest abnormality (2.82% of cases). HbD (Punjab) trait was the commonest variant haemoglobin encountered in the study population. There was a significant difference in percentages of variant fractions between compound heterozygotes and variant traits. A presumptive diagnosis of alpha thalassaemia trait was rendered based on RBC indices, iron profile and chromatogram study. Molecular studies were recommended in 81 cases with borderline increase in HbA2 levels to rule out silent mutations. Conclusion: A reasonably high frequency (5.9%) of haemoglobinopathies warrants a routine antenatal screening of total population. An accurate diagnosis can be made in majority of cases by haematological parameters, CE-HPLC chromatograms, cascade screening for haemoglobinopathies and spouses of antenatal cases positive for haemoglobinopathy.https://jcdr.net/articles/PDF/10947/31731_CE(RA1)_F(T)_PF1(AG_TG_AP)_PFA(MJ_AP)_PFA2(MJ_GG).pdfbeta thalassaemia traithaemoglobin variantshigh performance liquid chromatography |
| spellingShingle | Shivani Nayar Seema Acharya Rajiv Acharya Sanjeev Kishore Brijesh Thakur Spectrum of Haemoglobinopathies: A Hospital Based Study in Uttarakhand Journal of Clinical and Diagnostic Research beta thalassaemia trait haemoglobin variants high performance liquid chromatography |
| title | Spectrum of Haemoglobinopathies: A Hospital Based Study in Uttarakhand |
| title_full | Spectrum of Haemoglobinopathies: A Hospital Based Study in Uttarakhand |
| title_fullStr | Spectrum of Haemoglobinopathies: A Hospital Based Study in Uttarakhand |
| title_full_unstemmed | Spectrum of Haemoglobinopathies: A Hospital Based Study in Uttarakhand |
| title_short | Spectrum of Haemoglobinopathies: A Hospital Based Study in Uttarakhand |
| title_sort | spectrum of haemoglobinopathies a hospital based study in uttarakhand |
| topic | beta thalassaemia trait haemoglobin variants high performance liquid chromatography |
| url | https://jcdr.net/articles/PDF/10947/31731_CE(RA1)_F(T)_PF1(AG_TG_AP)_PFA(MJ_AP)_PFA2(MJ_GG).pdf |
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