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
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 sele...
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Wiley
2025-07-01
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| Online Access: | https://doi.org/10.1002/hsr2.71097 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Samuel Kwasi Appiah |
| collection | DOAJ |
| description | 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. |
| format | Article |
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| issn | 2398-8835 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Wiley |
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| series | Health Science Reports |
| spelling | doaj-art-a7f4a0e9a52b446dba7cbf4d8ba5eea22025-07-28T05:05:05ZengWileyHealth Science Reports2398-88352025-07-0187n/an/a10.1002/hsr2.71097Polymorphic Distribution of Human Homeostatic Iron Regulator Gene H63D rs1799945 and Clinico‐Hematological Parameters of Sickle Cell Anemia Patients: A Case‐Control Study in Northern GhanaSamuel Kwasi Appiah0Charles Nkansah1Samira Daud2Gabriel Abbam3Felix Osei‐Boakye4Larry Adom5Rekhiatu Oboirien Abdul Rauf6Godfred Takyi Addae7Lydia Sarpong8Godfred Amoah Appiah9Charles Agnaatah Derigubah10Jennifer Obeng Mensah11Onwuka Chima Kalu12Victor U. Usanga13Boniface Nwofoke Ukwah14Ejike Felix Chukwurah15Department of Haematology, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Haematology, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Haematology, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Haematology, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Medical Laboratory Technology, Faculty of Applied Science and Technology Sunyani Technical University Sunyani GhanaDepartment of Biomedical Laboratory Sciences, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Biomedical Laboratory Sciences, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Biomedical Laboratory Sciences, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Biomedical Laboratory Sciences, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Biomedical Laboratory Sciences, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Medical Laboratory Technology, Faculty of Applied Science and Technology Bolgatanga Technical University Sumbrungu GhanaDepartment of Biomedical Laboratory Sciences, School of Allied Health Sciences University for Development Studies Tamale GhanaDepartment of Medical Laboratory Science, Faculty of Health Science and Technology Ebonyi State University Abakaliki NigeriaDepartment of Medical Laboratory Science, Faculty of Health Science and Technology Ebonyi State University Abakaliki NigeriaDepartment of Medical Laboratory Science, Faculty of Health Science and Technology Ebonyi State University Abakaliki NigeriaDepartment of Medical Laboratory Science, Faculty of Health Science and Technology Ebonyi State University Abakaliki NigeriaABSTRACT 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.https://doi.org/10.1002/hsr2.71097homeostatic iron regulatorsickle cell anemiasickle cell diseasesingle‐nucleotide polymorphismvaso‐occlusive crises |
| spellingShingle | 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 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 Science Reports homeostatic iron regulator sickle cell anemia sickle cell disease single‐nucleotide polymorphism vaso‐occlusive crises |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | homeostatic iron regulator sickle cell anemia sickle cell disease single‐nucleotide polymorphism vaso‐occlusive crises |
| url | https://doi.org/10.1002/hsr2.71097 |
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