Incidence of Thalassaemia in Jammu and Kashmir, India
Introduction: Haemoglobinopathies are common genetic disorders of haemoglobin which occur due to abnormal production or structure of the haemoglobin molecule. They pose a considerable health problem in India and contribute significantly to morbidity and mortality. Cation Exchange-High Performan...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Pvt. Ltd.
2021-01-01
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| Series: | National Journal of Laboratory Medicine |
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| Online Access: | http://www.njlm.net/articles/PDF/2434/43728_CE[Ra1]_F(SHU)_PF1(AG_SHU)_PFA(SHU)_PB(AG_SHU)_PFA_GC(SHU)_GC(AS_SHU)_PN(SHU).pdf |
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| author | Roopali Jandial Ishani Gupta |
| author_facet | Roopali Jandial Ishani Gupta |
| author_sort | Roopali Jandial |
| collection | DOAJ |
| description | Introduction: Haemoglobinopathies are common genetic
disorders of haemoglobin which occur due to abnormal
production or structure of the haemoglobin molecule. They
pose a considerable health problem in India and contribute
significantly to morbidity and mortality. Cation Exchange-High
Performance Liquid Chromatography (CE-HPLC) is a very
simple and a precise method for quantifying HbA2, HbF and
other variant haemoglobins.
Aim: The present study was undertaken to study the spectrum
of haemoglobinopathies in patients reporting to a Tertiary Health
Care Centre in Jammu, India.
Materials and Methods: Present study was a prospective study
carried on 2356 samples from August 01, 2019-January 31,
2020. Sysmex XP 100 was used to obtain RBC indices and
Biorad D10 was used to perform CE-HPLC. To identify the
variant haemoglobins their retention times, percentages and
peak characteristics are taken into consideration. Continuous
variables were expressed as mean±SD. Categorical variables
were expressed as percentages.
Results: A total of 2356 cases were evaluated during the study
period. Haemoglobinopathy was observed in 5.89% of the cases
with β-thalassaemia trait was the most common abnormality (3%
of cases). The most common variant haemoglobin encountered
in the study population was HbD (Punjab) trait. Molecular
analysis was advised in 14 cases with borderline increase in
HbA2 levels to rule out silent mutations.
Conclusion: A routine antenatal screening of total
population is mandatory to detect the high frequency
(5.89%) of haemoglobinopathies. An accurate diagnosis
can be made in most of the cases by haematological
parameters, CE-HPLC chromatograms, cascade screening
for haemoglobinopathies and spouses of antenatal cases
positive for haemoglobinopathy. |
| first_indexed | 2024-12-21T15:40:49Z |
| format | Article |
| id | doaj.art-9d0b3be242f04a2993e5df72825be24e |
| institution | Directory Open Access Journal |
| issn | 2277-8551 2455-6882 |
| language | English |
| last_indexed | 2024-12-21T15:40:49Z |
| publishDate | 2021-01-01 |
| publisher | JCDR Research and Publications Pvt. Ltd. |
| record_format | Article |
| series | National Journal of Laboratory Medicine |
| spelling | doaj.art-9d0b3be242f04a2993e5df72825be24e2022-12-21T18:58:30ZengJCDR Research and Publications Pvt. Ltd.National Journal of Laboratory Medicine2277-85512455-68822021-01-01101PO11PO1310.7860/NJLM/2021/43728:2434Incidence of Thalassaemia in Jammu and Kashmir, IndiaRoopali Jandial0Ishani Gupta1Lecturer, Department of Pathology, Government Medical College, Jammu, Jammu and Kashmir, India.Senior Resident, Department of Pathology, Government Medical College, Jammu, Jammu and Kashmir, India.Introduction: Haemoglobinopathies are common genetic disorders of haemoglobin which occur due to abnormal production or structure of the haemoglobin molecule. They pose a considerable health problem in India and contribute significantly to morbidity and mortality. Cation Exchange-High Performance Liquid Chromatography (CE-HPLC) is a very simple and a precise method for quantifying HbA2, HbF and other variant haemoglobins. Aim: The present study was undertaken to study the spectrum of haemoglobinopathies in patients reporting to a Tertiary Health Care Centre in Jammu, India. Materials and Methods: Present study was a prospective study carried on 2356 samples from August 01, 2019-January 31, 2020. Sysmex XP 100 was used to obtain RBC indices and Biorad D10 was used to perform CE-HPLC. To identify the variant haemoglobins their retention times, percentages and peak characteristics are taken into consideration. Continuous variables were expressed as mean±SD. Categorical variables were expressed as percentages. Results: A total of 2356 cases were evaluated during the study period. Haemoglobinopathy was observed in 5.89% of the cases with β-thalassaemia trait was the most common abnormality (3% of cases). The most common variant haemoglobin encountered in the study population was HbD (Punjab) trait. Molecular analysis was advised in 14 cases with borderline increase in HbA2 levels to rule out silent mutations. Conclusion: A routine antenatal screening of total population is mandatory to detect the high frequency (5.89%) of haemoglobinopathies. An accurate diagnosis can be made in most of the cases by haematological parameters, CE-HPLC chromatograms, cascade screening for haemoglobinopathies and spouses of antenatal cases positive for haemoglobinopathy.http://www.njlm.net/articles/PDF/2434/43728_CE[Ra1]_F(SHU)_PF1(AG_SHU)_PFA(SHU)_PB(AG_SHU)_PFA_GC(SHU)_GC(AS_SHU)_PN(SHU).pdfanaemiaβ-thalassaemiahaemoglobinopathieshigh performance liquid chromatography |
| spellingShingle | Roopali Jandial Ishani Gupta Incidence of Thalassaemia in Jammu and Kashmir, India National Journal of Laboratory Medicine anaemia β-thalassaemia haemoglobinopathies high performance liquid chromatography |
| title | Incidence of Thalassaemia in Jammu and Kashmir, India |
| title_full | Incidence of Thalassaemia in Jammu and Kashmir, India |
| title_fullStr | Incidence of Thalassaemia in Jammu and Kashmir, India |
| title_full_unstemmed | Incidence of Thalassaemia in Jammu and Kashmir, India |
| title_short | Incidence of Thalassaemia in Jammu and Kashmir, India |
| title_sort | incidence of thalassaemia in jammu and kashmir india |
| topic | anaemia β-thalassaemia haemoglobinopathies high performance liquid chromatography |
| url | http://www.njlm.net/articles/PDF/2434/43728_CE[Ra1]_F(SHU)_PF1(AG_SHU)_PFA(SHU)_PB(AG_SHU)_PFA_GC(SHU)_GC(AS_SHU)_PN(SHU).pdf |
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