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Annals of Hematology

, Volume 98, Issue 8, pp 1805–1812 | Cite as

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

  • Salwa BakrEmail author
  • Mervat Khorshied
  • Noha Talha
  • Karim Yahia Jaffer
  • Nohair Soliman
  • Khaled Eid
  • Mona El-Ghamrawy
Original Article

Abstract

Sickle cell disease (SCD) is a relatively common inherited hemolytic anemia among individuals of African descent. Genetic factors might clarify clinical diversity of the disease and variations in treatment response. Some researchers investigated heme oxygenase-1 (HMOX1) or chemokine receptor 5 (CCR5Δ32) genotypes among SCD patients and their correlation with fetal hemoglobin (HbF) and disease severity. However, there are no such records among Arab nations. We aimed to estimate the prevalence of the HMOX1-413 A>T (rs2071746) and CCR5Δ32 (rs333) polymorphisms, and to assess their effect on SCD phenotype and HbF level among Egyptian patients. Polymerase chain reaction assay was used to determine these polymorphisms among 100 SCD patients and 100 healthy controls. Though not statistically significant, the frequency of individual carrying HMOX-1 polymorphic AT and TT genotypes in both patient and control groups was 92% and 85% respectively. Regarding CCR5Δ32 polymorphisms, all SCD patients harbored the wild genotype (100%), while the heteromutant genotype was encountered in 2% of our controls. Patients harboring mutant HMOX-1 had a less frequent vaso-occlusive crisis (VOC)/lifetime, less VOC in the last year, less incidence of stroke, less frequency of hospitalization, and responded more frequently to hydroxyurea with statistically significant differences (p = 0.028, 0.007, 0.046, 0.007, and 0.011 respectively). No significant associations with HbF level or other hematologic parameters were encountered among our cohort. Our study results suggest a protective effect of mutant HMOX-1 genotypes in ameliorating the phenotypic severity of the disease. HMOX1-413 A>T (rs2071746) polymorphisms might prove to be a prognostic marker among Egyptian SCD, but not CCR5Δ32 (rs333) polymorphisms.

Keywords

Sickle cell disease HMOX1 CCR5Δ32 Egypt 

Notes

Compliance with ethical standards

The study protocol was approved by the Research Ethics Committee of Faculty of Medicine, Cairo University. Informed consents were willingly given by the parents or guardians of participants prior to enrollment in the study. All procedures performed in our study were in accordance with the 1964 Helsinki declaration.

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

277_2019_3697_MOESM1_ESM.docx (134 kb)
ESM 1 (DOCX 133 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Clinical Pathology/Hematology, Faculty of MedicineFayoum UniversityFaiyumEgypt
  2. 2.Imam Abdulrahman Bin Faisal UniversityDammamSaudi Arabia
  3. 3.Department of Clinical & Chemical Pathology, Faculty of MedicineCairo UniversityCairoEgypt
  4. 4.Department of Pediatric, Pediatric Hematology and BMT Unit, Faculty of MedicineCairo UniversityCairoEgypt
  5. 5.College of MedicineAin Shams UniversityCairoEgypt

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