Mehdi Syed Riaz, Al Dahmash Badr Abdullah
Department of Medical Laboratory, Medical College, King Saud University, Riyadh-11416, Saudi Arabia.
Indian J Hum Genet. 2011 Sep;17(3):207-11. doi: 10.4103/0971-6866.92106.
Saudi Arabia falls in the high prevalent zone of αα and β thalassemias. Early screening for the type of thalassemia is essential for further investigations and management. The study was carried out to differentiate the type of thalassemia based on red cell indices and other hematological parameters.
The study was carried out on 991 clinically suspected cases of thalassemias in Riyadh, Saudi Arabia. The hematological parameters were studied on Coulter STKS. Cellulose acetate hemoglobin electrophoresis and high-performance liquid chromatography (HPLC) were performed on all the blood samples. Gene deletion studies were carried out by restriction fragment length polymorphism (RFLP) technique using the restriction endonucleases Bam HI.
Statistical analysis was performed on SPSS 11.5 version.
The hemoglobin electrophoresis and gene studies revealed that there were 406 (40.96%) and 59 (5.95 %) cases of β thalassemia trait and β thalassemia major respectively including adults and children. 426 cases of various deletion forms of α thalassemias were seen. Microcytosis was a common feature in β thalassemias trait and (-α/-α) and (--/αα) types of α thalassemias. MCH was a more significant distinguishing feature among thalassemias. β thalassemia major and α thalassemia (-α/αα) had almost normal hematological parameters.
MCV and RBC counts are not statistically significant features for discriminating between α and β thalassemias. There is need for development of a discrimination index to differentiate between α and β thalassemias traits on the lines of discriminatory Indices available for distinguishing β thalassemias trait from iron deficiency anemia.
沙特阿拉伯属于α和β地中海贫血的高流行区。早期筛查地中海贫血类型对于进一步的检查和治疗至关重要。本研究旨在根据红细胞指数和其他血液学参数来区分地中海贫血的类型。
本研究对沙特阿拉伯利雅得991例临床疑似地中海贫血病例进行。在库尔特STKS上研究血液学参数。对所有血样进行醋酸纤维素血红蛋白电泳和高效液相色谱(HPLC)分析。使用限制性内切酶Bam HI通过限制性片段长度多态性(RFLP)技术进行基因缺失研究。
在SPSS 11.5版本上进行统计分析。
血红蛋白电泳和基因研究显示,分别有406例(40.96%)和59例(5.95%)β地中海贫血特征和重型β地中海贫血病例,包括成人和儿童。观察到426例各种缺失形式的α地中海贫血。小红细胞症是β地中海贫血特征以及α地中海贫血(-α/-α)和(--/αα)类型的常见特征。平均红细胞血红蛋白含量(MCH)是地中海贫血之间更显著的区分特征。重型β地中海贫血和α地中海贫血(-α/αα)的血液学参数几乎正常。
平均红细胞体积(MCV)和红细胞计数对于区分α和β地中海贫血在统计学上不是显著特征。需要开发一种鉴别指数,以便像用于区分β地中海贫血特征与缺铁性贫血的鉴别指数那样,区分α和β地中海贫血特征。