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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Main Authors: Sanjay Pandey, Sweta Pandey, Rahasya Mani Mishra, Renu Saxena
Format: Article
Language:English
Published: Mattioli1885 2012-01-01
Series:Mediterranean Journal of Hematology and Infectious Diseases
Subjects:
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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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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