MODULATING EFFECT OF THE −158 GΓ (C→T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS

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Sanjay Pandey *
Sweta Pandey
Rahasya Mani Mishra
Renu Saxena
(*) Corresponding Author:
Sanjay Pandey | pandeysanjaybt@rediffmail.com

Abstract

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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Author Biographies

Sanjay Pandey, All India Institute Of Medical Sciences

SRF In Deptt. Of Hematology

Sweta Pandey, All India Institute of Medical Sciences,New Delhi, India

Deptt. of hematology, Student

Rahasya Mani Mishra, APS University, Rewa, India

Prof. in Department of Environmental Biology

Renu Saxena, All India Institute of Medical Sciences,New Delhi, India

Prof. in Department of hematology