Association between beta globin haplotypes, HBBP1 and HMOX1 polymorphisms in relation to HbF among sickle cell anemia patients: a study in Southwest Iran

Jaseb, Kaveh; Ramezani, Abolfazl; Far, Mohammad Ali Jalali; Mohammadi-Asl, Javad; Khosravi, Abbas; Saki, Najmaldin

doi:10.1007/s00580-017-2500-9

Cited by 3 publications

(3 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This leads to slow erythropoiesis and reduced production of erythroblasts which result in an augmented production of HbF, and second the homozygous mutant TT genotype may indirectly affect the genes associated with it, causing increased HbF production. [28][29][30] Our findings showed the higher levels of HbF in SCD patients with HMOX1 gene polymorphism that was in line with the results of Bhagat et al and Keikhaei et al 31,32 In our study population, TT genotype in HMOX1 gene (rs2071746: A > T polymorphism) had a significant correlation in relation to increasing HbF level in SCD (p < 0.001). This was in line with Gil et al 2013 and Jaseb et al, who found association of this genotype with increased levels of HbF (p ¼ 0.0131, p < 0.019).…”

Section: Discussionsupporting

confidence: 91%

See 1 more Smart Citation

Prevalence and Impact of HMOX1 Polymorphism (rs2071746: A > T) in Indian Sickle Cell Disease Patients

Pandey

Singh²,

Ranjan

et al. 2023

J Lab Physicians

View full text Add to dashboard Cite

Background Fetal hemoglobin (HbF) levels play significant role in lowering down the morbidity and mortality in sickle cell disease (SCD) patients. Coinheritance of heme oxygenase-1 (HMOX1) rs2071746:A > T polymorphism may contribute to variable HbF levels in Indian SCD patients. Aim and Objective This study was aimed to evaluate the role of HMOX1 polymorphism and its impact on HbF level in Indian SCD patients. Materials and Methods One-hundred twenty confirmed cases of SCD and 50 healthy controls were recruited. Their mean age was 11.5 ± 8.6 years (range: 3–23 years). Quantification of Hb, HbA2, HbF, and HbS was done by capillary zone electrophoresis. Allele-specific polymerase chain reaction was used to genotype HMOX1 (rs2071746:A > T) gene polymorphism. Results Out of the 120 cases of SCD, 65 were hemoglobin sickle-shaped (HbSS) and 55 were sickle-beta thalassemia (Sβ). Out of 65 HbSS patients, 29 (44.6%) were heterozygous (AT), 20 (30.76%) were homozygous (TT), and 16 (24.61%) were found wild-type (AA) genotype. Out of 55 Sβ, 22 (40%) were heterozygous, 18 (32%) were homozygous and 15 (28%) were wild-type. Patients carrying HMOX1 (rs2071746:A > T), AT, and TT genotypes had less anemia, painful crisis, splenomegaly, hepatomegaly, jaundice, and blood transfusion. HbF level was found higher in TT genotype (in HbSS the HbF levels was 25.1 ± 4.4; in sickle-beta thalassemia the HbF levels was 36.1 ± 4.7) than wild-type(AA) and was statistically significant (p-value <0.001). Conclusion The TT genotype of the rs2071746:A > T polymorphism was associated with increased levels of Hb F (p < 0.001). It can serve as a HbF modifier in Indian sickle cell diseases patients.

show abstract

Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Prevalence and Impact of HMOX1 Polymorphism (rs2071746: A > T) in Indian Sickle Cell Disease Patients

Pandey

Singh²,

Ranjan

et al. 2023

J Lab Physicians

View full text Add to dashboard Cite

show abstract

“…A similar frequency of the mutant allele was observed Bakr et al, in the sickle cell disease patients, where in the mutant genotype AT and TT was found to be at a higher frequency in both patients (53% and 39% respectively) and unaffected control groups (44.4% and 41.4% respectively) as compared to the wild genotype (AA) (8% and 14.1% respectively) 21 . However, the A (wild type allele) formed the major allele in the Iranian SCD patients and the normal control 22 . In the Brazilian cohort, AT genotype, was found to be the most common genotype in both patients and control group (44% and 62% respectively) 14 .…”

Section: Discussionmentioning

confidence: 99%

Significance of heme oxygenase-1(HMOX1) gene on fetal hemoglobin induction in sickle cell anemia patients

Hariharan

Chavan

Nadkarni

2020

Sci Rep

View full text Add to dashboard Cite

Though the patients with sickle cell anemia (SCA) inherit same genetic mutation, they show considerable phenotypic heterogeneity. It has been observed that patients with elevated fetal hemoglobin (HbF) levels have a relatively mild clinical course. There is sparse literature on the association of higher HbF levels leading to reduction in the oxidative stress in SCA patients. Hence in this study, the significance between the HMOX1 gene polymorphisms and the HbF levels has been studied. Preliminary screening was carried out. Genotyping of 3 variants in the HMOX1 gene was performed in 90 SCA patients and 50 healthy controls by PCR–RFLP, GeneScan and direct DNA sequencing. It was observed that SCA patients with higher HbF levels, showed improved hematological indices with an inverse effect on HbS levels. The TT genotype of rs2071746 (A→T) polymorphism was found to be associated with elevated HbF levels (P: 0.012). Also, the long form (> 25 GT repeats) of rs3074372 (GT)n repeats was found to be linked with increased HbF levels. We could not find any association of rs2071749 (A→G) polymorphism with the HbF levels. As, the sickle cell anemia patients show significant oxidative stress due to hemolysis, the study of polymorphisms in the HMOX1 gene may act as a potential independent marker for elevated HbF levels.

show abstract

Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia

et al. 2019

View full text Add to dashboard Cite

Association between beta globin haplotypes, HBBP1 and HMOX1 polymorphisms in relation to HbF among sickle cell anemia patients: a study in Southwest Iran

Cited by 3 publications

References 27 publications

Prevalence and Impact of HMOX1 Polymorphism (rs2071746: A > T) in Indian Sickle Cell Disease Patients

Prevalence and Impact of HMOX1 Polymorphism (rs2071746: A > T) in Indian Sickle Cell Disease Patients

Significance of heme oxygenase-1(HMOX1) gene on fetal hemoglobin induction in sickle cell anemia patients

Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia

Contact Info

Product

Resources

About