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

IF 2.1 Q2 MEDICINE, GENERAL & INTERNAL

Health Science Reports Pub Date : 2025-07-21 DOI:10.1002/hsr2.71097

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

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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.

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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

背景与目的研究SCA患者HFE基因H63D rs1799945多态性分布及临床血液学参数。方法于2023年3月至7月在加纳北部选取60例年龄2 ~ 38岁的镰状细胞性贫血（SCA）患者和30例无镰状细胞病的健康对照者进行病例对照研究。乙二胺四乙酸（EDTA）抗凝血样品使用5组分血液自动分析仪（中国URIT-5250）进行全血细胞计数估算。采用DNA自旋柱法（Qiagen Kit）从全血中提取基因组DNA，采用Agena MassARRAY和iPLEX PCR （Agena bioscience， USA）对H63D rs1799945基因进行分型。结果受试者年龄中位数为15.8（2.0 ~ 38.0）岁。所有的研究参与者都只拥有H63D rs1799945基因的野生型等位基因（CC）。在研究人群中未检测到突变变体（CG和GG）。与对照组相比，SCA参与者的RBC （p < 0.001）、Hb （p < 0.001）和HCT （p < 0.001）显著降低，但铁蛋白（p < 0.001）、CRP （p < 0.001）、MCV （p = 0.001）、RDW-CV% （p < 0.001）、TWBC （p < 0.001）和血小板计数（p = 0.002）水平较高。血管闭塞危像（VOC）的发生率与SCA患者铁蛋白（r = 0.458, p < 0.001）、CRP （r = 0.461, p < 0.001）、血小板（r = 0.537, p < 0.001）和白细胞计数（r = 0.302, p = 0.019）水平升高相关，但与Hb水平呈负相关（r = - 517, p < 0.001）。此外，铁蛋白水平（p < 0.001）、Hb （p = 0.001）、TWBC （p = 0.018）、血小板水平（p < 0.001）、VOC频率（p < 0.001）和住院次数（p < 0.001），羟基脲治疗组比羟基脲naïve组显著改善。结论G等位基因突变在研究人群中非常罕见。与对照组相比，该研究还观察到SCA参与者的严重血液学改变。羟基脲被发现可以改善临床血液学参数和鼓励其使用的必要性。

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