Saad Hanan Kamel M, Taib Wan Rohani Wan, Ab Ghani Azly Sumanty, Ismail Imilia, Al-Rawashde Futoon Abedrabbu, Almajali Belal, Alhawamdeh Maysa, Abd Rahman Alawiyah Awang, Al-Wajeeh Abdullah Saleh, Al-Jamal Hamid Ali Nagi
School of Biomedicine, Faculty of Health Sciences, Gong Badak Campus, Universiti Sultan Zainal Abidin, Kuala Nerus 21300, Terengganu, Malaysia.
Pathology Department Hospital Sultanah Nur Zahirah, Kuala Terengganu 20400, Terengganu, Malaysia.
Diagnostics (Basel). 2023 Mar 26;13(7):1247. doi: 10.3390/diagnostics13071247.
β-thalassaemia is a disorder caused by mutations in the β-globin gene, leading to defective production of haemoglobins (Hb) and red blood cells (RBCs). It is characterised by anaemia, ineffective erythropoiesis, and iron overload. Patients with severe β-thalassaemia require lifelong blood transfusions. Haemoglobin E beta-thalassaemia (HbE/β-thalassaemia) is a severe form of β-thalassaemia in Asian countries. More than 200 alleles have been recognised in the β-globin region. Different geographical regions show different frequencies of allelic characteristics. In this study, the spectrum of β-thalassaemia (β-thal) alleles and their correlation with iron overload, in HbE/β-thalassaemia patients, β-thalassaemia trait, and HbE trait were studied.
Blood samples ( = 260) were collected from 65 β-thalassaemia patients, 65 parents (fathers and/or mothers) and 130 healthy control individuals. Haematological analyses, iron profiles, and serum hepcidin levels were examined for all participants. DNA was extracted from patients' and their parents' blood samples, then subjected to PCR amplification. Multiplex amplification refractory mutation system PCR (MARMS-PCR) was conducted for eighteen primers to detect the mutations.
There was severe anaemia present in HbE/β-thalassaemia patients compared to their parents and healthy controls. The ferritin and iron levels were significantly increased in patients compared to their parents and healthy controls ( = 0.001). Two common mutations were detected among the patient group and three mutations were detected among their parents, in addition to seven novel mutations in HbE/β-thalassaemia patients (explained in results).
Some mutations were associated with severe anaemia in β-thalassaemia patients. The detection of mutations is a prognostic marker, and could enhance the appropriate management protocols and improve the haematological and biochemical statuses of β-thalassaemia patients.
β地中海贫血是一种由β珠蛋白基因突变引起的疾病，导致血红蛋白（Hb）和红细胞（RBC）生成缺陷。其特征为贫血、无效造血和铁过载。重度β地中海贫血患者需要终身输血。血红蛋白Eβ地中海贫血（HbE/β地中海贫血）是亚洲国家β地中海贫血的一种严重形式。在β珠蛋白区域已识别出200多个等位基因。不同地理区域显示出不同的等位基因特征频率。在本研究中，对HbE/β地中海贫血患者、β地中海贫血特征患者和HbE特征患者中β地中海贫血（β-thal）等位基因谱及其与铁过载的相关性进行了研究。
从65例β地中海贫血患者、65名父母（父亲和/或母亲）和130名健康对照个体中采集血样（n = 260）。对所有参与者进行血液学分析、铁指标和血清铁调素水平检测。从患者及其父母的血样中提取DNA，然后进行PCR扩增。使用18对引物进行多重扩增阻滞突变系统PCR（MARMS-PCR）以检测突变。
与他们的父母和健康对照相比，HbE/β地中海贫血患者存在严重贫血。与他们的父母和健康对照相比，患者的铁蛋白和铁水平显著升高（P = 0.001）。在患者组中检测到两个常见突变，在其父母中检测到三个突变，此外在HbE/β地中海贫血患者中还检测到七个新突变（结果中解释）。
一些突变与β地中海贫血患者的严重贫血有关。突变检测是一种预后标志物，可加强适当的管理方案并改善β地中海贫血患者的血液学和生化状态。
