The HBG2 rs7482144 (C > T) Polymorphism is Linked to HbF Levels but not to the Severity of Sickle Cell Anemia.

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-06-01 DOI:10.1055/s-0041-1733950
Bhaskar V K S Lakkakula, Smaranika Pattnaik
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引用次数: 3

Abstract

Sickle cell anemia (SCA) is a severe disease characterized by anemia, acute clinical complications, and a relatively short life span. In this disease, abnormal hemoglobin makes the red blood cells deformed, rigid, and sticky. Fetal hemoglobin (HbF) is one of the key modulators of SCA morbidity and mortality. Interindividual HbF variation is a heritable trait that is controlled by polymorphism in genes linked and unlinked to the hemoglobin β gene (HBB). The genetic polymorphisms that determine HbF levels are known to ameliorate acute clinical events. About 190 well-characterized homozygous SCA patients were included in this study. Complete blood count (CBC), high-performance liquid chromatography (HPLC), and clinical investigations were obtained from patient's records. Severity scores were determined by using the combination of anemia, complications, total leucocyte count, and transfusion scores. HBG2 rs7482144 polymorphism was genotyped by using the polymerase chain reaction and restriction fragment length polymorphism. The association between HBG2 rs7482144 polymorphism and HbF levels as well as the disease severity of SCA were assessed. SCA patients carrying TT genotype were found to have higher HbF levels. In addition, SCA patients with increased severity showed significantly lower levels of hemoglobin, HbF, and hematocrit values. However, the genotypes of HBG2 rs7482144 polymorphism were not found to be associated with the risk of disease severity. In summary, this study demonstrated that HBG2 rs7482144 polymorphism is linked with HbF levels, but it does not affect disease severity. The sample sizes used and the pattern of association deduced from our small sample size prevents us from extrapolating our findings further.

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HBG2 rs7482144 (C > T)多态性与HbF水平有关,但与镰状细胞性贫血的严重程度无关。
镰状细胞性贫血(SCA)是一种以贫血、急性临床并发症和相对较短的寿命为特征的严重疾病。在这种疾病中,异常的血红蛋白使红细胞变形、僵硬和粘稠。胎儿血红蛋白(HbF)是SCA发病率和死亡率的关键调节因子之一。个体间HbF变异是一种遗传性状,由与血红蛋白β基因(HBB)相关和非相关基因的多态性控制。已知决定HbF水平的遗传多态性可以改善急性临床事件。本研究纳入了约190例特征良好的纯合子SCA患者。全血细胞计数(CBC)、高效液相色谱(HPLC)和临床调查从患者的记录。严重程度评分由贫血、并发症、总白细胞计数和输血评分联合确定。采用聚合酶链反应和限制性片段长度多态性对HBG2 rs7482144多态性进行基因分型。评估HBG2 rs7482144多态性与HbF水平以及SCA疾病严重程度之间的关系。携带TT基因型的SCA患者HbF水平较高。此外,严重程度增加的SCA患者血红蛋白、HbF和红细胞压积值水平显著降低。然而,未发现HBG2 rs7482144多态性的基因型与疾病严重程度的风险相关。综上所述,本研究表明HBG2 rs7482144多态性与HbF水平相关,但不影响疾病严重程度。使用的样本量和从我们的小样本量推断出的关联模式使我们无法进一步推断我们的发现。
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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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