Olatunya Oladele Simeon, Albuquerque Dulcineia Martins, Santos Magnun Nueldo Nunes, Kayode Tolorunju Segun, Adekile Adekunle, Costa Fernando Ferreira
Hematology and Hemotherapy Center, University of Campinas, Campinas, São Paulo State, Brazil.
Department of Paediatrics, College of Medicine, Ekiti State University, Ado Ekiti, Ekiti State, Nigeria.
Appl Clin Genet. 2020 May 8;13:107-114. doi: 10.2147/TACG.S246607. eCollection 2020.
To determine the various haptoglobin genotypes and their influence on the clinico-laboratory manifestations among young Nigerian sickle cell anemia (SCA) patients.
A total of 101 SCA patients and 64 controls were studied. SCA was diagnosed by polymerase chain reaction (PCR). Haptoglobin genotype was determined by PCR followed by agarose gel electrophoresis. The patients' laboratory and clinical parameters were differentiated by haptoglobin genotypes.
The Hp1 and Hp2 alleles frequencies were 0.62 and 0.38 in the patients and 0.73 and 0.27 in the controls, respectively, and these did not differ significantly (p>0.05). The haptoglobin genotype distribution among the patients and controls were Hp1-1, 43 (42.6%); Hp2-1, 40 (39.6%); Hp2-2, 18 (17.8%) and Hp1-1, 35 (54.7%); Hp2-1, 24 (37.5%); Hp2-2, 5 (7.8%), respectively, with no difference between the two groups (P>0.05). No significant difference was found in the clinical events and laboratory parameters of the patients when partitioned according to the various haptoglobin genotypes (P> 0.05).
This study found that haptoglobin gene polymorphism does not have a significant influence on the clinico-laboratory manifestations among SCA patients.
确定年轻尼日利亚镰状细胞贫血(SCA)患者中各种触珠蛋白基因型及其对临床实验室表现的影响。
共研究了101例SCA患者和64例对照。通过聚合酶链反应(PCR)诊断SCA。通过PCR随后进行琼脂糖凝胶电泳确定触珠蛋白基因型。根据触珠蛋白基因型区分患者的实验室和临床参数。
患者中Hp1和Hp2等位基因频率分别为0.62和0.38,对照中分别为0.73和0.27,差异无统计学意义(p>0.05)。患者和对照中触珠蛋白基因型分布分别为Hp1-1,43例(42.6%);Hp2-1,40例(39.6%);Hp2-2,18例(17.8%)以及Hp1-1,35例(54.7%);Hp2-1,24例(37.5%);Hp2-2,5例(7.8%),两组之间无差异(P>0.05)。根据各种触珠蛋白基因型对患者的临床事件和实验室参数进行划分时,未发现显著差异(P>0.05)。
本研究发现触珠蛋白基因多态性对SCA患者的临床实验室表现无显著影响。