%0 Journal Article
%T MODULATING EFFECT OF THE  158 G¦£ (C¡úT) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS
%A Sanjay Pandey
%A Sweta Pandey
%A Rahasya Mani Mishra
%A Renu Saxena
%J Mediterranean Journal of Hematology and Infectious Diseases
%D 2012
%I 
%R 10.4084/mjhid.2012.
%X 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 ¦Â-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.
%K Sickle cell anemia
%K Xmn-1
%K Polymorphism
%U http://www.mjhid.org/article/view/9127