Alsamiri Ali, Alzahrani Fatma, Filimban Najlaa, Khojah Ammar, Felimban Raed, Qadah Talal
Medical Laboratory Technology, King Abdulaziz University - Faculty of Applied Medical Sciences, Jeddah, SAU.
Pediatrics, King Abdulaziz University Hospital, Jeddah, SAU.
Cureus. 2021 Feb 16;13(2):e13367. doi: 10.7759/cureus.13367.
Introduction Beta-thalassemia is among the most common monogenic disorders in the Arabian Peninsula. This study aimed to investigate the β-globin (HBB) haplotypes among β-thalassemia patients in Saudi cohort which have potential implications in understanding the clinical care of patients and population genetic factors associated with β-thalassemia. Methods We analyzed 60 β-thalassemia patients. Male/female distribution for β-thalassemia was 58.33%/41.66%. Results of hematological parameters and indices were obtained from the database. HBB haplotyping assay was performed for four specific loci of the HBB gene cluster using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results HBB haplotyping assay identified three novel patterns namely haplotype 1, haplotype 2, and haplotype 3 and three common African haplotypes including Benin, Senegal, and Cameron. The frequency of haplotype 1 was the highest among the studied samples (62%, n = 37) with 56.76% (n = 21) observed in males compared to 43.24% (n = 16) in females. This was followed by Senegal, haplotype 2, Benin and haplotype 3 with similar percentage, and Cameron haplotype with 18%, 12%, 3% and 2%, respectively. The relationship between these haplotypes and various hematological parameters was calculated and our study found no significant relationship (p-value >0.05). Conclusion Our study indicated the importance of finding out types of β-globin haplotypes as novel types being discovered. Though no statistically significant association was identified among all the haplotypes in terms of hematological parameters, Cameroon or Benin haplotypes had the mildest form because they have the highest means among all parameters. Further studies need to be carried out on a larger population to detect the frequency of each specific mutation in each haplotype among β-thalassemia patients. This would help to re-address the question of the origin(s) of the β-thalassemia.
引言
β地中海贫血是阿拉伯半岛最常见的单基因疾病之一。本研究旨在调查沙特队列中β地中海贫血患者的β珠蛋白（HBB）单倍型，这对于理解患者的临床护理以及与β地中海贫血相关的群体遗传因素具有潜在意义。
方法
我们分析了60例β地中海贫血患者。β地中海贫血的男性/女性分布为58.33%/41.66%。血液学参数和指标的结果来自数据库。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对HBB基因簇的四个特定位点进行HBB单倍型分析。
结果
HBB单倍型分析鉴定出三种新的模式，即单倍型1、单倍型2和单倍型3，以及三种常见的非洲单倍型，包括贝宁型、塞内加尔型和喀麦隆型。在研究样本中，单倍型1的频率最高（62%，n = 37），其中男性观察到的频率为56.76%（n = 21），女性为43.24%（n = 16）。其次是塞内加尔型、单倍型2、贝宁型和单倍型3，比例相似，喀麦隆单倍型分别为18%、12%、3%和2%。计算了这些单倍型与各种血液学参数之间的关系，我们的研究未发现显著关系（p值>0.05）。
结论
我们的研究表明，随着新类型的β珠蛋白单倍型被发现，找出其类型具有重要意义。尽管在血液学参数方面，所有单倍型之间未发现统计学上的显著关联，但喀麦隆或贝宁单倍型的形式最为轻微，因为它们在所有参数中的平均值最高。需要对更大的人群进行进一步研究，以检测β地中海贫血患者中每种单倍型中每种特定突变的频率。这将有助于重新探讨β地中海贫血的起源问题。
