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
{"title":"人体内平衡铁调节基因H63D rs1799945的多态性分布和镰状细胞性贫血患者的临床血液学参数：加纳北部的一项病例对照研究","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","doi":"10.1002/hsr2.71097","DOIUrl":null,"url":null,"abstract":"<div>\n \n \n <section>\n \n <h3> Background and Aim</h3>\n \n <p>The study assessed the polymorphic distribution of H63D rs1799945 of HFE gene and clinico-hematological parameters of SCA patients.</p>\n </section>\n \n <section>\n \n <h3> Methods</h3>\n \n <p>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).</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>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 (<i>p</i> < 0.001), Hb (<i>p</i> < 0.001), and HCT (<i>p</i> < 0.001), but higher levels of ferritin (<i>p</i> < 0.001), CRP (<i>p</i> < 0.001), MCV (<i>p</i> = 0.001), RDW-CV% (<i>p</i> < 0.001), TWBC (<i>p</i> < 0.001) and platelet count (<i>p</i> = 0.002) in SCA participants than the controls. Incidence of vaso-occlusive crisis (VOC) correlated with increased levels of ferritin (<i>r</i> = 0.458, <i>p</i> < 0.001), CRP (<i>r</i> = 0.461, <i>p</i> < 0.001), platelet (<i>r</i> = 0.537, <i>p</i> < 0.001) and WBC (<i>r</i> = 0.302, <i>p</i> = 0.019) counts but inversely correlated with Hb levels (<i>r</i> = −517, <i>p</i> < 0.001) of SCA patients. Also, levels of ferritin (<i>p</i> < 0.001), Hb (<i>p</i> = 0.001), TWBC (<i>p</i> = 0.018), platelet (<i>p</i> < 0.001), frequencies of VOC (<i>p</i> < 0.001) and number of hospitalization (<i>p</i> < 0.001), were significantly improved in participants on hydroxyurea therapy than the hydroxyurea naïve participants.</p>\n </section>\n \n <section>\n \n <h3> Conclusion</h3>\n \n <p>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.</p>\n </section>\n </div>","PeriodicalId":36518,"journal":{"name":"Health Science Reports","volume":"8 7","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/hsr2.71097","citationCount":"0","resultStr":"{\"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\",\"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\",\"doi\":\"10.1002/hsr2.71097\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Background and Aim</h3>\\n \\n <p>The study assessed the polymorphic distribution of H63D rs1799945 of HFE gene and clinico-hematological parameters of SCA patients.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>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).</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>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 (<i>p</i> < 0.001), Hb (<i>p</i> < 0.001), and HCT (<i>p</i> < 0.001), but higher levels of ferritin (<i>p</i> < 0.001), CRP (<i>p</i> < 0.001), MCV (<i>p</i> = 0.001), RDW-CV% (<i>p</i> < 0.001), TWBC (<i>p</i> < 0.001) and platelet count (<i>p</i> = 0.002) in SCA participants than the controls. Incidence of vaso-occlusive crisis (VOC) correlated with increased levels of ferritin (<i>r</i> = 0.458, <i>p</i> < 0.001), CRP (<i>r</i> = 0.461, <i>p</i> < 0.001), platelet (<i>r</i> = 0.537, <i>p</i> < 0.001) and WBC (<i>r</i> = 0.302, <i>p</i> = 0.019) counts but inversely correlated with Hb levels (<i>r</i> = −517, <i>p</i> < 0.001) of SCA patients. Also, levels of ferritin (<i>p</i> < 0.001), Hb (<i>p</i> = 0.001), TWBC (<i>p</i> = 0.018), platelet (<i>p</i> < 0.001), frequencies of VOC (<i>p</i> < 0.001) and number of hospitalization (<i>p</i> < 0.001), were significantly improved in participants on hydroxyurea therapy than the hydroxyurea naïve participants.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Conclusion</h3>\\n \\n <p>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.</p>\\n </section>\\n </div>\",\"PeriodicalId\":36518,\"journal\":{\"name\":\"Health Science Reports\",\"volume\":\"8 7\",\"pages\":\"\"},\"PeriodicalIF\":2.1000,\"publicationDate\":\"2025-07-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1002/hsr2.71097\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Health Science Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/hsr2.71097\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Health Science Reports","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/hsr2.71097","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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 (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.
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