TY - JOUR AU - Pandey, Sanjay AU - Pandey, Sweta AU - Mishra, Rahasya Mani AU - Saxena, Renu PY - 2012/01/15 Y2 - 2024/03/29 TI - MODULATING EFFECT OF THE ?158 G? (C?T) XMN-1 POLYMORPHISM IN INDIAN SICKLE CELL PATIENTS JF - Mediterranean Journal of Hematology and Infectious Diseases JA - Mediterr J Hematol Infect Dis VL - 4 IS - 1 SE - Original Articles DO - 10.4084/mjhid.2012.001 UR - https://www.mjhid.org/mjhid/article/view/2012.001 SP - e2012001 AB - <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 ?-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> ER -