Early Diagnostics of Beta Thalassemia Minor

Abstract

Early diagnosis of disease is highly recommended for the treatment purposes by the clinicians. Thalassemia is a genetic disorder which can be inherited from the parents. Thalassemia is classified into two groups alpha thalassemia and beta thalassemia depending upon the severity of the infants. The methods for early diagnosis of beta Thalassamia which is currently used in some diagnostic labs, for instances, current direct and indirect mutation detection method. Recently, most researchers have been discovered the latest or emerging methods to improve the technology in order to minimize invasive methods that may be used as a routine procedure for the future which is better than current methods, like pre-implantation genetic diagnosis and non-invasive prenatal diagnosis. For current methods, chorionic villi sampling (CVS) and amniocentesis are used whereas blastomere biopsy is used for pre-implantation genetic diagnosis. Hence, non-invasive prenatal diagnosis can be perfomed by using fetal cells which is found in maternal plasma such as trophoblasts, erythrocytes and leucocytes. Emerging methods for early diagnosis of beta thalassaemia minor are much safer than current methods that will minimize the risk and less invasive to the patients.