XmnI polymorphism is associated with fetal hemoglobin levels in hypoplastic syndromes

Shimmoto, Marily Maria Azevedo; Vicari, Perla; Fernandes, Andréa Cristina; Guimarães, Gustavo S.; Figueiredo, Maria Stella

doi:10.1590/s1516-31802006000200012

Cited by 6 publications

(2 citation statements)

References 4 publications

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“…This heterogeneity is likely to be due to the presence of different β-thalassemia alleles or interaction with modulating genetic factors like associated α-thalassemia and/or a gene for raised HbF production (X mn 1 polymorphism) 23. Heterozygosity for presence of X mn 1 site polymorphism is also likely to influence phenotype24 and X mn 1 polymorphism absence reduction is associated with acquired HbF elevation 25. Gilmans13 data are consistent with the hypothesis that T at position - 1 58 causes the high HbF values.…”

Section: Discussionmentioning

confidence: 75%

Modulating Effect of the −158 Gγ (C→t) XMN-1 Polymorphism in Indian Sickle Cell Patients

Pandey

Mishra

et al. 2012

Mediterr J Hematol Infect Dis

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Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and Sickle Cell Diseases contributes to a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn1 polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. 60 sickle homozygous and 75 sickle beta thalassemia patients were included and 5 ml blood sample was collected from them. Screening of sickle patients was done by HPLC. An automated cell analyzer SYSMEX (K-4500 Model) was used to analyze the Complete Blood Count of patients. Xmn1 polymorphism analysis was done by PCR-RFLP and one-way ANOVA test was applied to analysis of variance between groups. Among the sickle patients 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 patients with Xmn1 carrier and without the Xmn1 carrier. In our cases the clinical symptoms were barely visible and higher HbF level with Xmn1 carriers were found. Presence of Xmn1 polymorphism in sickle cell patients with higher HbF were phenotypically distinguished in the sickle cell patients. We conclude that the phenotypes of Indian sickle cell patients were greatly influenced by Xmn1polymorphism.

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Section: Discussionmentioning

confidence: 75%

Modulating Effect of the −158 Gγ (C→t) XMN-1 Polymorphism in Indian Sickle Cell Patients

Pandey

Mishra

et al. 2012

Mediterr J Hematol Infect Dis

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“…The XmnI polymorphism is a common genetic variation that was reported in previous studies to increase HbF level and therefore ameliorate the severity of the sickle cell disease.Our study shows that a polymorphism of the XmnI was found to be associated with higher expression of HbF in sickle cell and sickle cell trait patients. Several studies confirmed the association between XmnI and fetal hemoglobin 10,11 .Appositive association was observed between the HbF level and the presence of Xmn1 site in SS and sickle thalassemia groups Recently, other genetic association studies shown that several single nucleotide polymorphisms, associated with variation in the expression of HbF in sickle cell disease 12 .The XmnI polymorphism is known to influence the γ G gene expression in sickle cell anemia and to increased HbF concentrations when they are under conditions of erythropoietic stress 13 . Study conducted by FarizKahhaleh et.al to assist the Association of Xmn1 polymorphism and consanguineous marriage with fetal hemoglobin in Syrian patients with sickle cell disease they concluded that a strong evidence on the importance of Xmn1 polymorphism and consanguineous marriage, among other factors, in the prediction of clinical severity and hydroxyurea response in SCD patients 14 .…”

Section: Discussionmentioning

confidence: 86%

Association of XmnI Polymorphism with Fetal Hemoglobin Level in Sudanese Patients with Sickle Cell Disease

Tarig Osman Khalafallah Ahmed,

Abeer Alshazaly Abdulrahman Altag,

Ahmed Abdalla Agab Eldour

et al. 2021

IJOCM

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Background: Sickle cell disease (SCD) is an inherited blood disorder that affects red blood cells. The study of various modulating factors, and genetic factors affecting the clinical severity of the SCD is an interesting research focus especially in communities with a distinct genetic background. The XmnI polymorphism is a common genetic variation that was reported in previous studies to increase fetal hemoglobin (HbF) level. This was a descriptive cross-sectional study, conducted in El-Obeid city in Northern Kordofan state, western Sudan, during the period from August to November 2016. The Xmn1 polymorphic site was determined by polymerase chain reaction. Data was analyzed using SPSS software program version 20. P-value of 0.05 and below was considered of significance. In present study HbF level among normal individuals AA , shown significant difference (p<0.05) between presence of Xmnl +/+ and absence of Xmnl -/-site. in patients with SS , the HbF level was higher in those who had one or two Xmnl sites as compared to those with the site absent . In patients with sickle cell trait AS and AA, only the presence of the one and two Xmnl site (+/+) compared to the absence of the site (-/-) was associated with significant increase in the HbF level. There is a close link between the Xmn1 polymorphism site and HbF level. A wide range of HbF level was obtained both in the present and absence of this site. Further studies with a large sample size as well as analysis BS haplotypes among the patient with sickle cell anemia population are needed for better understand of possible association .

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The Xmn1 polymorphic site 5′ to the Gγ gene and its correlation to the Gγ:Aγ ratio, age at first blood transfusion and clinical features in β-Thalassemia patients from Western Iran

2009

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beta-Thalassemia is the most common single gene disorder in Iran and more than 25,000 affected individuals have been reported. It has been reported that in patients with beta-thalassemia in the presence of Xmn1 polymorphic site the level of Hb F and (G)gamma: (A)gamma ratio is increased. The prevalence of Xmn1 polymorphic site, (G)gamma: (A)gamma ratio and Hb F in 197 beta-thalassemia major patients from the Kermanshah Province of Iran were studied. The Xmn1 polymorphic site was determined by PCR-RFLP procedure. The levels of (G)gamma and (A)gamma chains were detected by HPLC. The percent of Hb F was determined using electrophoresis method. In beta-thalassemia major patients the frequency of presence Xmn1 was 0.39. The mean of (G)gamma: (A)gamma ratio was found to be 2.5. In the present study it was found that in the presence of Xmn1 polymorphic site (G)gamma percent and (G)gamma: (A)gamma ratio were significantly increased (P = 0.01) and the clinical features such as splenomegaly and bone marrow expansion were significantly improved (P = 0.01). We found that in the presence of Xmn1 polymorphic site on both chromosomes (+/+) the level of Hb F tended to be increased compared to the absence of Xmn1 (-/-). The present investigation has studied the frequency of Xmn1 polymorphic site in beta-thalassemia major patients from Western Iran and has revealed that the presence of this polymorphic site caused a positive influence on Hb F production and the (G)gamma percent which could improve the clinical symptoms of beta-thalassemia patients.

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XmnI polymorphism is associated with fetal hemoglobin levels in hypoplastic syndromes

Cited by 6 publications

References 4 publications

Modulating Effect of the −158 Gγ (C→t) XMN-1 Polymorphism in Indian Sickle Cell Patients

Modulating Effect of the −158 Gγ (C→t) XMN-1 Polymorphism in Indian Sickle Cell Patients

Association of XmnI Polymorphism with Fetal Hemoglobin Level in Sudanese Patients with Sickle Cell Disease

The Xmn1 polymorphic site 5′ to the Gγ gene and its correlation to the Gγ:Aγ ratio, age at first blood transfusion and clinical features in β-Thalassemia patients from Western Iran

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