Spectrum of types of thalassemias and hemoglobinopathies: study in a tertiary level children hospital in Bangladesh

Abstract

Thalassemias and hemoglobinopathies are the most common hemolytic congenital disorders in Bangladesh as in many parts of the world. This study was done to find the common types of thalassemias and abnormal hemoglobin variants seen in Bangladeshi populations. A total of 4813 samples were analyzed for hemoglobin disorders out of which 2308 (49.95%) showed abnormalities. The samples were analyzed by Bio Rad D 10 Analyzer in 3914 (81.32%) cases, BIORAD VARIANTβ thalassemia short program using the principle of high performance liquid chromatography in 474 (9.85%) cases and by CAPILLARYS 2 FLEX PIERCING utilizing capillary electrophoresis in 425 (8.83%) cases. The samples were analyzed in the Department of Biochemistry and Molecular Biology of Dhaka Shishu (Children) Hospital, Dhaka, Bangladesh. The common hemoglobin disorders seen were β trait 863 (17.94%), Hb E trait 601 (12.50%), Hb E β thalassemia 524 (10.87%), β thalassemia major 192(4.00 %), Hb E disease 99 (2.05%). Other Hb abnormalities detected were Hb D trait 17 (0.35%), Sickle cell trait 4 (0.08%), hereditary persistence of fetal hemoglobin (HPFH) 2 (0.04%), and Hb Lepore, δ β thalassemia, sickle cell β thalassemia, Sickle cell disease, compound heterozygote for HbE+D and Hb Q band one case each (0.02%). 与世界许多地方一样，地中海和血红蛋白病是孟加拉国最常见的溶血性先天性疾病。本研究的目的是找到孟加拉国人群的常见地中海贫血类型和异常血红蛋白变体。总共对4813例样本进行了血红蛋白疾病分析，其中2308例（49.95%）显示异常。3914例（81.32%）样本使用Bio Rad D 10分析仪分析，由BIORAD VARIANTβ地中海贫血症短期计划使用高效液相色谱法分析了474例（9.85%），由CAPILLARYS 2 FLEX PIERCING使用毛细管电泳分析了425例（8.83%）。样本在孟加拉达卡的达卡生化与分子生物学教研室进行分析。观察到的常见血红蛋白疾病是863例（17.94%）β特征、601例（12.50%）Hb E特征、524例（10.87%）Hb E β地中海贫血、192例（4.00 %）β重型地中海贫血、99例（2.05%）Hb E疾病。检测到的其他Hb异常为17例（0.35%）Hb D特征、4例（0.08%）镰状细胞性状、2例（0.04%）遗传性持续性胎儿血红蛋白综合征（HPFH）以及Hb Lepore δ β地中海贫血、镰状细胞β地中海贫血、镰状细胞病、HbE+D和Hb Q带的复合杂合体各一例（0.02%）。