应用高效液相色谱法评估尼日利亚镰状细胞贫血患者胎儿血红蛋白状况。

Departments of Haematology & Immunology, Faculty of Clinical Medicine, College of Health Sciences, Ebonyi State University, Abakaliki, Nigeria.

Safety Molecular Pathology Laboratory, The Molecular Pathology Institute, Enugu, Nigeria.

West Afr J Med. 2021 Mar 22;38(3):222-227.

BACKGROUND

Sickle cell anaemia (SCA, HbSS) is a genetic disorder of haemoglobin with marked variation in clinical manifestation. The aim of this study was to determine the foetal haemoglobin (HbF) status of patients with HbSS, compared with that of individuals with HbAS and HbAA control as well as to establish the relationship between HbF level and age and gender of the participants.

METHODS

This was a cross-sectional study in which HbF values of known HbSS patients along with HbAS and HbAA controls were analysed using High Performance Liquid Chromatography. Socio-demographic and other information were obtained with the use of questionnaire. Data was analyzed using SPSS software, version 20.0. Ethical approval was obtained for the study.

RESULTS

One hundred and two (102) participants were recruited for the study, comprising 60 patients with HbSS, 22 HbAS and 20 HbAA controls, with mean age of 11.0 years±9.6, 11.7 years ±8.8 and 12.3 years±8.1 respectively. There were 30 (61.2%) males and 30 (56.6%) females for HbSS group, 9 (18.4%) males and 13(24.5%) females for HbAS group and 10(20.4%) males and 10(18.9%) for HbAA group. Mean HbF level among HbSS participants was 8.0 ±6.1% and was significantly higher than that of HbAS (3.0 ±3.4%) and HbAA (2.2 ±4.1%) control (P<0.05). Mean HbF level was higher in children (<18 years) than adults (e"18 years) among HbSS, HbAS and HbAA participants, though not statistically significant (p >0.05). Mean HbF level was also higher among female HbSS, HbAS and HbAA groups compared to corresponding male groups, though only HbSS female group was significant (p = 0.031).

CONCLUSION

Patients with HbSS have significantly higher HbF level than individuals with HbAS and HbAA. Foetal haemoglobin level tend to decrease with advancing age and higher in females. Increased HbF level may play a compensatory mechanism in sickling in HbSS, thus the use of agent that increase HbF level may improve clinical outcome.

背景

镰状细胞贫血症（SCA，HbSS）是一种血红蛋白遗传疾病，临床表现差异很大。本研究旨在确定 HbSS 患者的胎儿血红蛋白（HbF）状态，并与 HbAS 和 HbAA 对照组进行比较，同时确定 HbF 水平与参与者的年龄和性别之间的关系。

方法

这是一项横断面研究，使用高效液相色谱法分析已知 HbSS 患者以及 HbAS 和 HbAA 对照组的 HbF 值。使用问卷获得社会人口统计学和其他信息。使用 SPSS 软件版本 20.0 分析数据。本研究获得了伦理批准。

结果

本研究共招募了 102 名参与者，包括 60 名 HbSS 患者、22 名 HbAS 和 20 名 HbAA 对照组，平均年龄分别为 11.0 岁±9.6、11.7 岁±8.8 和 12.3 岁±8.1。HbSS 组有 30 名（61.2%）男性和 30 名（56.6%）女性，HbAS 组有 9 名（18.4%）男性和 13 名（24.5%）女性，HbAA 组有 10 名（20.4%）男性和 10 名（18.9%）女性。HbSS 组参与者的平均 HbF 水平为 8.0±6.1%，明显高于 HbAS（3.0±3.4%）和 HbAA（2.2±4.1%）对照组（P<0.05）。在 HbSS、HbAS 和 HbAA 参与者中，儿童（<18 岁）的平均 HbF 水平高于成人（e"18 岁），但差异无统计学意义（p>0.05）。与相应的男性组相比，女性 HbSS、HbAS 和 HbAA 组的平均 HbF 水平也较高，但只有 HbSS 女性组有显著差异（p=0.031）。