MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS
<p>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. <strong> </strong>Our aim was<strong> &a...
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PAGEPress Publications
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/article/view/9127 |
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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 | <p>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. <strong> </strong>Our aim was<strong> </strong>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 &lt;0.001) of hematological parameters seen among patient with xmn-1 carrier and without the xmn-1 carrier.<sup> </sup> 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.</p> |
| format | Article |
| id | doaj-art-6645e67f604c4b19b8bb9b11d17c864f |
| institution | DOAJ |
| issn | 2035-3006 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-6645e67f604c4b19b8bb9b11d17c864f2025-08-20T02:51:02ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062012-01-0141e2012001e2012001MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTSSanjay PandeySweta PandeyRahasya Mani MishraRenu Saxena<p>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. <strong> </strong>Our aim was<strong> </strong>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 &lt;0.001) of hematological parameters seen among patient with xmn-1 carrier and without the xmn-1 carrier.<sup> </sup> 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.</p>http://www.mjhid.org/article/view/9127Sickle 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/article/view/9127 |
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