| Article Details : |
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| | | Article Name : | | | Integrin alpha2 ITGA2 gene C807T allele
Polymorphism and Clinical Severity of Sickle Cell
Disease among Sudanese patients | | Author Name : | | | ALAAEDDIN M. ELZUBEIR1, ABEER EDRIS
ESRAA ELHASSAN
HIBA ALI
REEM SULIMAN
ROWIDAH ZUMRAWY
TUMADER IBRAHIM
OSMAN A. SADDIG, NAZIK ELMALAIKA O. S. HUSAIN, ABU ELGASIM A. ELKAREEM, HIND M. AHMED, NOAH M. | | Publisher : | | | Bridge Center | | Article URL : |  | | | Abstract : | | | Background: Sickle cell disease (SCD) vaso-occlusive crisis
are still responsible for high morbidity and early mortality. Integrins,
a family of cell surface receptors, interact with vascular cell adhesion
molecule-1 and fibronectin, leading to vaso-occlusion. Objectives: The present study aimed to investigate the correlation
between the Integrin Alpha 2 (ITGA2) C807T (rs1126643) polymorphic
loci and clinical severity of homozygous SCD in Sudanese patients, as
well as hematologic variables.
Methods: Human venous blood samples were collected from
homozygous SCD patients admitted to referral Hematology Clinic
(n=133, ‘patients’) and apparently healthy individuals (n=112,
‘controls’). Blood was genotyped by polymerase chain reactionrestriction fragment length polymorphism. Complete blood counts were
measured by hematology analyzer.
Result: The genotype and allele frequencies of ITGA2 C807T
were found to be significantly different between patients and controls
(p=0.002). Relative risk analysis of allele frequency showed that
patients with the T allele were 5.4 times more likely to suffer from
hemolytic crisis, vaso-occlusive and ischemic stroke rather than
patients with the C allele. As expected Hematologic parameters; Hb,
RBCs and PCV were all significantly higher in controls than in
patients when compared between severity groups P. value (0.000,
0.045, and 0.034), respectively.
Conclusion: ITGA2 C807T (rs1126643) polymorphism is
associated with more complications and crisis, with the T allele that
appears to deliberate increased susceptibility to ischemic stroke and
vasoocclusive crisis in Sudanese patients with homozygous SCD. | | Keywords : | | | Sickle Cell Disease, SCA, Clinical Severity, ITGA2
C807T allele polymorphism |
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