MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS
Xmn-1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and SCD constitutes a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn I polymorphism as a modulating factor in sickle cell pat...
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Mattioli1885
2012-01-01
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Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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Online Access: | http://www.mjhid.org/index.php/mjhid/article/view/361 |
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author | Sanjay Pandey Sweta Pandey Rahasya Mani Mishra Renu Saxena |
author_facet | Sanjay Pandey Sweta Pandey Rahasya Mani Mishra Renu Saxena |
author_sort | Sanjay Pandey |
collection | DOAJ |
description | Xmn-1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and SCD constitutes a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn I polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. Subjects were 60 sickles homozygous and 75 sickle beta thalassemia patients. 5 ml blood samples collected from patients. Screening of sickle patients done by HPLC. An automated cell analyzer SYSMEX (K-4500 Model) used to analyze the CBC of patients.Xmn1 polymorphism analysis done by PCR-RFLP and Statistical analysis was performed on GraphPad static’s software. t test applied to compare the means amongst group. Among the sickle homozygous 27 were heterozygous (+/-) and 19 were homozygous (+/+) while 30 were heterozygous and 24 were homozygous in sickle β-thalassemia patients. Extremely significant differences (p-value <0.001) of hematological parameters seen among patient with xmn-1 carrier and without the xmn-1 carrier. In our cases the clinical symptom less frequent and higher HbF level with Xmn-1 carriers. Presence of Xmn-1 polymorphism in sickle patients with higher HbF that improve phenotypic presentation in the sickle cell patients. We conclude that the phenotype of Indian sickle cell patients influenced by Xmn-1 polymorphism. |
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language | English |
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series | Mediterranean Journal of Hematology and Infectious Diseases |
spelling | doaj.art-33153f7075294cd28d928a528dfc55f32022-12-21T19:23:18ZengMattioli1885Mediterranean Journal of Hematology and Infectious Diseases2035-30062012-01-0141e2012001e201200110.4084/mjhid.2012.001253MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTSSanjay Pandey0Sweta Pandey1Rahasya Mani Mishra2Renu Saxena3All India Institute Of Medical SciencesAll India Institute of Medical Sciences,New Delhi, IndiaAPS University, Rewa, IndiaAll India Institute of Medical Sciences,New Delhi, IndiaXmn-1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and SCD constitutes a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn I polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. Subjects were 60 sickles homozygous and 75 sickle beta thalassemia patients. 5 ml blood samples collected from patients. Screening of sickle patients done by HPLC. An automated cell analyzer SYSMEX (K-4500 Model) used to analyze the CBC of patients.Xmn1 polymorphism analysis done by PCR-RFLP and Statistical analysis was performed on GraphPad static’s software. t test applied to compare the means amongst group. Among the sickle homozygous 27 were heterozygous (+/-) and 19 were homozygous (+/+) while 30 were heterozygous and 24 were homozygous in sickle β-thalassemia patients. Extremely significant differences (p-value <0.001) of hematological parameters seen among patient with xmn-1 carrier and without the xmn-1 carrier. In our cases the clinical symptom less frequent and higher HbF level with Xmn-1 carriers. Presence of Xmn-1 polymorphism in sickle patients with higher HbF that improve phenotypic presentation in the sickle cell patients. We conclude that the phenotype of Indian sickle cell patients influenced by Xmn-1 polymorphism.http://www.mjhid.org/index.php/mjhid/article/view/361Sickle cell anemia, Xmn-1, Polymorphism |
spellingShingle | Sanjay Pandey Sweta Pandey Rahasya Mani Mishra Renu Saxena MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS Mediterranean Journal of Hematology and Infectious Diseases Sickle cell anemia, Xmn-1, Polymorphism |
title | MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS |
title_full | MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS |
title_fullStr | MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS |
title_full_unstemmed | MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS |
title_short | MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS |
title_sort | modulating effect of the 158 gγ c t xmn 1 polymorphism in indian sickle cell patients |
topic | Sickle cell anemia, Xmn-1, Polymorphism |
url | http://www.mjhid.org/index.php/mjhid/article/view/361 |
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