西喀麦隆镰状细胞患者的珠蛋白基因多态性:血液学和临床意义。

Q3 Medicine Advances in Hematology Pub Date : 2021-10-20 eCollection Date: 2021-01-01 DOI:10.1155/2021/6939413
Christian Bernard Kengne Fotsing, Constant Anatole Pieme, Prosper Cabral Biapa Nya, Jean Paul Chedjou, Samuel Ashusong, Gisele Njindam, Jocelyn Tony Nengom, Georges Teto, Carine Nguemeni, Wilfred Fon Mbacham, Donatien Gatsing
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引用次数: 3

摘要

触珠蛋白是一种保护身体免受游离血红蛋白有害影响的蛋白质。触珠蛋白基因表现出多态性,不同的基因型对游离血红蛋白的抵抗能力不同。本研究旨在确定接触珠蛋白在西喀麦隆镰状细胞患者(SCPs)中的多态性分布及其对血液学参数的影响,以及疾病严重程度的临床表现。采用等位基因特异性聚合酶链反应(pcr)测定102名SCPs (SS)和115名健康个体(60名AA和55名AS)的Haptoglobin基因型,并用autoanalyzer测定全血细胞计数。结果显示,Hp2-2基因型显著(p < 0.05) (p < 0.05), Hp1S: 0.304, Hp1F: 0.084。在AA和AS对照中,Hp1和Hp2等位基因的比例相似(各0.5左右),AS中Hp1S为0.282,Hp1F为0.218,AA中Hp1S为0.283,Hp1F为0.258。在血液学参数和疾病严重程度的临床表现上,与对照组的触珠蛋白基因型分布无明显差异。hps - 1f基因型SCP的血红蛋白水平最高。虽然Hp2-2在SS患者中更常见,但它似乎与血液学参数和疾病的严重程度无关。需要进一步研究Hp多态性的影响,如抗氧化性、脂质谱和某些组织的功能。
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Haptoglobin Gene Polymorphism among Sickle Cell Patients in West Cameroon: Hematological and Clinical Implications.

Haptoglobin is a protein involved in protecting the body from the harmful effects of free hemoglobin. The haptoglobin gene exhibits a polymorphism, and the different genotypes do not have the same capacity to combat the free hemoglobin effects. The present study aimed at determining the polymorphic distribution of haptoglobin in sickle cell patients (SCPs) from West Cameroon and their impact on the hematological parameters, as well as clinical manifestations of the disease severity. Haptoglobin genotype of 102 SCPs (SS) and 115 healthy individuals (60 AA and 55 AS) was determined by allele-specific polymerase chain reaction, and the complete blood count was determined using the AutoAnalyser. Results showed that the genotype Hp2-2 was significantly (p < 0.05) represented in SS patients (54%) than in controls AA and AS (27% and 29%, respectively), while Hp2-1 was mostly found (p < 0.05) in AS (42%) and AA (38%), against 15% in SS. The allelic distribution in SS patients was Hp2: 0.613, Hp1S: 0.304, and Hp1F: 0.084. In AA and AS controls, the proportions of the Hp1 and Hp2 alleles were similar (around 0.5 each), with 0.282 for Hp1S and 0.218 for Hp1F in AS and 0.283 for Hp1S and 0.258 for Hp1F in AA. The distribution of the haptoglobin genotypes did not reveal any significant difference across hematological parameters and clinical manifestations of disease severity in SCP and controls. SCP with Hp1S-1F genotype presented the highest level of hemoglobin. Although Hp2-2 was more frequent in SS patients, it appeared not to be related to the hematological parameters and to the disease's severity. Further investigations are necessary to explore the impact of Hp polymorphism such as antioxidant, lipid profile, and functionality of some tissues in SCP in Cameroon.

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来源期刊
Advances in Hematology
Advances in Hematology Medicine-Hematology
CiteScore
3.30
自引率
0.00%
发文量
10
审稿时长
15 weeks
期刊最新文献
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