Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia.
Chronic hyperbilirubinaemia, gallstone formation, and gall bladder disease are unusually common in people with haemoglobin E beta thalassaemia in Sri Lanka. To determine whether this has a genetic basis we compared the bilirubin levels and frequency of gallstones in patients with different alleles o...
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2001
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| _version_ | 1797080715912806400 |
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| author | Premawardhena, A Fisher, C Fathiu, F de Silva, S Perera, W Peto, T Olivieri, N Weatherall, D |
| author_facet | Premawardhena, A Fisher, C Fathiu, F de Silva, S Perera, W Peto, T Olivieri, N Weatherall, D |
| author_sort | Premawardhena, A |
| collection | OXFORD |
| description | Chronic hyperbilirubinaemia, gallstone formation, and gall bladder disease are unusually common in people with haemoglobin E beta thalassaemia in Sri Lanka. To determine whether this has a genetic basis we compared the bilirubin levels and frequency of gallstones in patients with different alleles of the UGT*1 gene. There was a significantly higher bilirubin level in those with the 7/7 genotypes compared with 6/6 and 6/7 genotype (p=0.032 and 0.0015 respectively), who also appeared more prone to gallstone formation. These results suggest that the UGT*1 genotpe is of importance in the genesis of gallstones in this population of patients. |
| first_indexed | 2024-03-07T01:04:06Z |
| format | Journal article |
| id | oxford-uuid:8abc5d44-3800-432d-91e7-7a9c39ca7284 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T01:04:06Z |
| publishDate | 2001 |
| record_format | dspace |
| spelling | oxford-uuid:8abc5d44-3800-432d-91e7-7a9c39ca72842022-03-26T22:33:28ZGenetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:8abc5d44-3800-432d-91e7-7a9c39ca7284EnglishSymplectic Elements at Oxford2001Premawardhena, AFisher, CFathiu, Fde Silva, SPerera, WPeto, TOlivieri, NWeatherall, DChronic hyperbilirubinaemia, gallstone formation, and gall bladder disease are unusually common in people with haemoglobin E beta thalassaemia in Sri Lanka. To determine whether this has a genetic basis we compared the bilirubin levels and frequency of gallstones in patients with different alleles of the UGT*1 gene. There was a significantly higher bilirubin level in those with the 7/7 genotypes compared with 6/6 and 6/7 genotype (p=0.032 and 0.0015 respectively), who also appeared more prone to gallstone formation. These results suggest that the UGT*1 genotpe is of importance in the genesis of gallstones in this population of patients. |
| spellingShingle | Premawardhena, A Fisher, C Fathiu, F de Silva, S Perera, W Peto, T Olivieri, N Weatherall, D Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. |
| title | Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. |
| title_full | Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. |
| title_fullStr | Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. |
| title_full_unstemmed | Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. |
| title_short | Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. |
| title_sort | genetic determinants of jaundice and gallstones in haemoglobin e beta thalassaemia |
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