Appiah Samuel Kwasi, Nkansah Charles, Daud Samira, Abbam Gabriel, Osei-Boakye Felix, Adom Larry, Rauf Rekhiatu Oboirien Abdul, Addae Godfred Takyi, Sarpong Lydia, Appiah Godfred Amoah, Derigubah Charles Agnaatah, Mensah Jennifer Obeng, Kalu Onwuka Chima, Usanga Victor U, Ukwah Boniface Nwofoke, Chukwurah Ejike Felix
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.
Health Sci Rep. 2025 Jul 21;8(7):e71097. doi: 10.1002/hsr2.71097. eCollection 2025 Jul.
The study assessed the polymorphic distribution of H63D rs1799945 of HFE gene and clinico-hematological parameters of SCA patients.
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).
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.
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.
本研究评估了HFE基因H63D rs1799945的多态性分布以及镰状细胞贫血（SCA）患者的临床血液学参数。
2023年3月至7月，在加纳北部选取了60例年龄在2至38岁之间的镰状细胞贫血（SCA）患者和30例无镰状细胞病的健康对照进行这项病例对照研究。使用乙二胺四乙酸（EDTA）抗凝的血液样本，通过五分类血液学自动分析仪（中国URIT-5250）进行全血细胞计数。采用DNA柱式提取法（Qiagen试剂盒）从全血中提取基因组DNA，并使用美国Agena Biosciene公司的Agena MassARRAY和iPLEX PCR技术对H63D rs1799945基因进行基因分型。
参与者的中位年龄为15.8（2.0 - 38.0）岁。所有研究参与者仅拥有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）。SCA参与者的红细胞（<0.001）、血红蛋白（<0.001）和血细胞比容（<0.001）显著降低，但铁蛋白（<0.001）、C反应蛋白（<0.001）、平均红细胞体积（=0.001）、红细胞分布宽度变异系数（<0.001）、白细胞总数（<0.001）和血小板计数（=0.002）水平高于对照组。血管闭塞性危机（VOC）的发生率与SCA患者铁蛋白（=0.458，<0.001）、C反应蛋白（=0.461，<0.001）、血小板（=0.537，<0.001）和白细胞（=0.302，=0.019）计数的升高相关，但与血红蛋白水平（=-517，<0.001）呈负相关。此外，接受羟基脲治疗的参与者的铁蛋白（<0.001）、血红蛋白（=0.001）、白细胞总数（=0.018）、血小板（<0.001）、VOC频率（<0.001）和住院次数（<0.001）与未接受羟基脲治疗的参与者相比有显著改善。
突变的G等位基因在研究人群中非常罕见。与对照组相比，本研究还观察到SCA参与者存在严重的血液学改变。发现羟基脲可改善临床血液学参数，因此有必要鼓励使用。
