Journal Article Epublish
PubMed: 40692571 DOI: 10.1002/hsr2.71097
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.
Health Sci Rep 8(7):e71097
Authors: Samuel Kwasi Appiah, Charles Nkansah, Samira Daud, Gabriel Abbam, Felix Osei-Boakye, Larry Adom, Rekhiatu Oboirien Abdul Rauf, Godfred Takyi Addae, Lydia Sarpong, Godfred Amoah Appiah, Charles Agnaatah Derigubah, Jennifer Obeng Mensah, Onwuka Chima Kalu, Victor U Usanga, Boniface Nwofoke Ukwah, Ejike Felix Chukwurah
Affiliations
- Department of Haematology, School of Allied Health Sciences University for Development Studies Tamale Ghana.
- Department of Medical Laboratory Science, Faculty of Health Science and Technology Ebonyi State University Abakaliki Nigeria.
- Department of Medical Laboratory Technology, Faculty of Applied Science and Technology Sunyani Technical University Sunyani Ghana.
- Department of Biomedical Laboratory Sciences, School of Allied Health Sciences University for Development Studies Tamale Ghana.
- Department of Medical Laboratory Technology, Faculty of Applied Science and Technology Bolgatanga Technical University Sumbrungu Ghana.
Abstract
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 (p < 0.001), Hb (p < 0.001), and HCT (p < 0.001), but higher levels of ferritin (p < 0.001), CRP (p < 0.001), MCV (p = 0.001), RDW-CV% (p < 0.001), TWBC (p < 0.001) and platelet count (p = 0.002) in SCA participants than the controls. Incidence of vaso-occlusive crisis (VOC) correlated with increased levels of ferritin (r = 0.458, p < 0.001), CRP (r = 0.461, p < 0.001), platelet (r = 0.537, p < 0.001) and WBC (r = 0.302, p = 0.019) counts but inversely correlated with Hb levels (r = -517, p < 0.001) of SCA patients. Also, levels of ferritin (p < 0.001), Hb (p = 0.001), TWBC (p = 0.018), platelet (p < 0.001), frequencies of VOC (p < 0.001) and number of hospitalization (p < 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.
MeSH
Cells, Genes, Blood, Anemia, Sickle Cell, Anemia, Case-Control Studies, Genes, Regulator, Ferritins, Alleles, Blood Platelets, Edetic Acid, Hydroxyurea