Siti Asmaa Mat Jusoh, Miin Phoon Lee, Zakaria Nur Atikah, Hussin Suryati, Bahar Rosnah, Hassan Mohd Nazri, Zulkafli Zefarina, Iberahim Salfarina, Abdullah Marne, Mohd Noor Noor Haslina, Mohamed Yusoff Shafini, Ramli Marini
Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.
Hematology Unit, Department of Pathology, Hospital Raja Perempuan Zainab II, Kota Bharu, MYS.
Cureus. 2024 Mar 31;16(3):e57353. doi: 10.7759/cureus.57353. eCollection 2024 Mar.
Background Hb Adana is a non-deletional alpha (α)-thalassaemia variant resulting from mutations in α1- or α2-globin codon 59 (α), leading to the production of unstable α-globin. Clinical manifestations can vary from silent carrier status to dependence on blood transfusions, hepatosplenomegaly, skeletal deformities, and spinal cord compression. Despite the significance of Hb Adana inheritance, studying this variant poses challenges due to the scarcity of molecular tests and the potential for routine diagnoses to be overlooked. This study aims to investigate the prevalence of Hb Adana among local high school students and assess the hematological parameters and hemoglobin analysis of Hb Adana in Malaysia. Methodology This retrospective study analyzed 13,721 blood samples collected from high school students participating in Malaysia's National Thalassaemia Screening Program at Hospital Raja Perempuan Zainab II (HRPZ II). Deletional α-thalassaemia was detected using multiplex gap-polymerase chain reaction (PCR), while common non-deletional α-thalassaemia was identified using multiplex amplification refractory mutation system (ARMS) PCR. Data were extracted from the HRPZ II database for analysis. Results Among the participants, 2327 individuals were found to have either common deletional (n=1037, 44.6%) or non-deletional (n=1290, 55.4%) α-thalassaemia. Hb Constant Spring was the most prevalent non-deletional α-thalassaemia, accounting for 53.03% of cases. Thirty-one participants (1.33%) exhibited αα/αα, and one (0.04%) had αα/-α. Among the 32 subjects with Hb Adana, 87.5% were Malay, and 12.5% were Orang Asli. Additionally, seven cases of HbE/Hb Adana co-inheritance were identified. Hemoglobin levels in heterozygous Hb Adana individuals ranged from mild anemia to normal, between 95 g/L and 153 g/L. Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were approximately 73 fL and 23 pg, respectively. Conclusion This study delineates the distribution of α-thalassaemia mutation patterns among high school students in Kelantan, Northeast Peninsular Malaysia. Our findings indicate that Hb Adana is rare in our region and co-inheritance with an α-gene deletion results in α+-thalassaemia and with HbE, α0-thalassaemia. All heterozygous Hb Adana individuals exhibited low MCVs and MCHs.
血红蛋白阿达纳（Hb Adana）是一种非缺失型α地中海贫血变异体，由α1或α2珠蛋白密码子59（α）突变引起，导致产生不稳定的α珠蛋白。临床表现从无症状携带者状态到依赖输血、肝脾肿大、骨骼畸形和脊髓受压不等。尽管Hb Adana遗传具有重要意义，但由于分子检测稀缺以及常规诊断可能被忽视，对这种变异体的研究面临挑战。本研究旨在调查马来西亚当地高中生中Hb Adana的患病率，并评估Hb Adana的血液学参数和血红蛋白分析。
这项回顾性研究分析了从在拉惹珀empuan再娜卜二世医院（HRPZ II）参加马来西亚国家地中海贫血筛查项目的高中生中采集的13721份血样。使用多重缺口聚合酶链反应（PCR）检测缺失型α地中海贫血，同时使用多重扩增阻滞突变系统（ARMS）PCR鉴定常见的非缺失型α地中海贫血。从HRPZ II数据库中提取数据进行分析。
在参与者中，发现2327人患有常见的缺失型（n = 1037，44.6%）或非缺失型（n = 1290，55.4%）α地中海贫血。血红蛋白恒春（Hb Constant Spring）是最常见的非缺失型α地中海贫血，占病例的53.03%。31名参与者（1.33%）表现为αα/αα，1名（0.04%）为αα/-α。在32名患有Hb Adana的受试者中，87.5%为马来人，12.5%为原住民。此外，还鉴定出7例HbE/Hb Adana共遗传病例。杂合子Hb Adana个体的血红蛋白水平介于轻度贫血到正常之间，在95 g/L至153 g/L之间。平均红细胞体积（MCV）和平均红细胞血红蛋白（MCH）分别约为73 fL和23 pg。
本研究描绘了马来西亚半岛东北部吉兰丹州高中生中α地中海贫血突变模式的分布。我们的研究结果表明，Hb Adana在我们地区很罕见，与α基因缺失共遗传会导致α+地中海贫血，与HbE共遗传会导致α0地中海贫血。所有杂合子Hb Adana个体均表现出低MCV和低MCH。
