Clin Lab. 2020 Dec 1;66(12). doi: 10.7754/Clin.Lab.2020.200334.
Hemoglobinopathies and thalassemia are defined as a group of inherited blood disorders characterized by a variable degree of anemia with a wide spectrum of clinical symptoms. They are commonly found in the Mediterranean area, sub-Sahara Africa, Middle East, Central India, and Southeast Asia with an estimation of 400,000 babies born annually with serious hemoglobinopathies. Of those, 90% of the births occur in underdevel-oped or developing countries. This study was undertaken to investigate the prevalence of hemoglobin disorders among anemic patients who visited a tertiary care setting represented by King Abdulaziz University Hospital.
This is a cross sectional study which investigated blood samples from 668 anemic patients for possible causes of anemia. This investigation involved the use of complete blood count, hemoglobin separation using capillary electrophoresis, and measurement of nutritional elements commonly investigated for anemia.
We found that the frequency of different types of hemoglobinopathies and thalassemia among the subjects were as follow; normal (HbAA) 439 (65.7%); Sickle Cell Trait (HbAS) 65 (9.7%); Sickle Cell Anemia (HbSS) 63 (9.4%); β-thalassemia trait 48 (7.2%); Hb S/β 27 (4.0%); HbH 7 (1.0%); HbE 6 (0.9%); beta-thalassemia major 6 (0.9%); Hb E/beta-thalassemia 4 (0.6%); HbC 1 (0.1%); HbD 1 (0.1%) and HbSC 1 (0.1%).
The findings of this study emphasize the necessity of increasing public health education, neonatal and adult screening programs, as well as nutritional guidance and plans to start the eradication of this burden.
血红蛋白病和地中海贫血定义为一组遗传性血液疾病,其特征为不同程度的贫血和广泛的临床症状。这些疾病在地中海地区、撒哈拉以南非洲、中东、印度中部和东南亚较为常见,每年估计有 40 万患有严重血红蛋白病的婴儿出生。其中,90%的病例发生在欠发达国家或发展中国家。本研究旨在调查在阿卜杜勒阿齐兹国王大学医院为代表的三级医疗保健机构就诊的贫血患者中血红蛋白疾病的患病率。
这是一项横断面研究,调查了 668 名贫血患者的血液样本,以确定可能导致贫血的原因。该研究包括全血细胞计数、毛细管电泳血红蛋白分离以及常用的贫血营养元素检测。
我们发现研究对象中不同类型的血红蛋白病和地中海贫血的发生率如下:正常血红蛋白(HbAA)439 例(65.7%);镰状细胞特征(HbAS)65 例(9.7%);镰状细胞贫血(HbSS)63 例(9.4%);β-地中海贫血特征 48 例(7.2%);Hb S/β 27 例(4.0%);HbH 7 例(1.0%);HbE 6 例(0.9%);重型β-地中海贫血 6 例(0.9%);HbE/β-地中海贫血 4 例(0.6%);HbC 1 例(0.1%);HbD 1 例(0.1%);HbSC 1 例(0.1%)。
本研究结果强调了增加公共卫生教育、新生儿和成人筛查计划以及营养指导和计划以开始消除这一负担的必要性。