Polymorphic Distribution of Human Homeostatic Iron Regulator Gene H63D rs1799945 and Clinico-Hematological Parameters of Sickle Cell Anemia Patients: A Case-Control Study in Northern Ghana.

BACKGROUND AND AIM

The study assessed the polymorphic distribution of H63D rs1799945 of HFE gene and clinico-hematological parameters of SCA patients.

METHODS

Sixty sickle cell anemia (SCA) patients and 30 healthy controls without sickle cell disease between the ages of 2-38 years were selected for this case-control study from March to July, 2023 in the Northern Ghana. Ethylenediaminetetraacetic acid (EDTA)-anticoagulated blood samples were used for complete blood count estimation using a 5-part hematology autoanalyzer (URIT-5250 China). Genomic DNA was extracted from whole blood using the spin-column protocol for DNA (Qiagen Kit) and genotyping of H63D rs1799945 gene was performed using Agena MassARRAY with iPLEX PCR (Agena Biosciene, USA).

RESULTS

The median age of the participants was 15.8 (2.0-38.0) years. All the study participants possess only the wild-type allele (CC) of the H63D rs1799945 gene. The mutant variants (CG and GG) were not detected among the study population. There were significant reductions in the RBC ( < 0.001), Hb ( < 0.001), and HCT ( < 0.001), but higher levels of ferritin ( < 0.001), CRP ( < 0.001), MCV ( = 0.001), RDW-CV% ( < 0.001), TWBC ( < 0.001) and platelet count ( = 0.002) in SCA participants than the controls. Incidence of vaso-occlusive crisis (VOC) correlated with increased levels of ferritin ( = 0.458,  < 0.001), CRP ( = 0.461,  < 0.001), platelet ( = 0.537,  < 0.001) and WBC ( = 0.302,  = 0.019) counts but inversely correlated with Hb levels ( = -517,  < 0.001) of SCA patients. Also, levels of ferritin ( < 0.001), Hb ( = 0.001), TWBC ( = 0.018), platelet ( < 0.001), frequencies of VOC ( < 0.001) and number of hospitalization ( < 0.001), were significantly improved in participants on hydroxyurea therapy than the hydroxyurea naïve participants.

CONCLUSION

The mutant G allele is very rare among the study population. The study also observed severe hematological alterations in SCA participants compared to the controls group. Hydroxyurea was found to improve the clinico-hematological parameters and the need to encourage its usage.