RMSc 8 Udonthani laboratory network for supporting prevention and control of thalassemia: 7 years of experience

Abstract

Thalassemia is one of most important genetic disorders in Thailand. According to the crucial role of medical laboratory in prevention and control of thalassemia, Regional Medical Sciences Center Rmsc 8, Udonthani has developed the laboratory network in 7 provinces including Udonthani, Sakonnakhon, Nakhonphanom, Loei, Nongkhai, Buengkan and Nongbualamphu. During 2550-2556 BE; a total of 41,977 specimens were sent to the RMSc 8 Udonthani for analysis. Among these, various forms of abnormality were found; including 22,132 (52.7 %) Hb E trait, 4,461 (10.6 %) homozygous Hb E, 743 (1.7 %) Hb H disease, 611 (1.4 %) β - thal trait and 3,804 (9.1 %) abnormal Hb. A total of 1,097 couples at risk for 3 severe thalassemia diseases were detected. There were 554 (50.5 %), 525 (47.9 %) and 18 (1.6 %) couples at risk for Hb Bart’s hydrops fetalis, β-thalassemia / Hb E and β-thalassemia major, respectively. Among 329 couples subjected to prenatal diagnosis, 90 fetuses were affected; including 47 Hb Bart’s hydrops fetalis and 43 β-thalassemia / Hb E disease.  The overall cost of laboratory screening, confirmation and prenatal diagnosis was much less than that of the estimated cost of treatment for affected patient. In conclusion, development of the RMSc 8 thalassemia laboratory network is cost-effective and can efficiently support the prevention and control program of thalassemia in the region.