Laboratory diagnosis for thalassemia.

Thalassemia is one of the common genetic disorders worldwide. alpha-thalassemia, beta-thalassemia, Hb E and Hb Constant Spring are common mutations found in S E Asia. The diagnoses of thalassemia and some abnormal hemoglobin carriers are very crucial for the identification of a high risk couple who will need further investigation of prenatal diagnosis. Determination of any thalassemic disease such as Hb H disease, homozygous beta-thalassemia, beta-thalassemia/Hb E can be carried out easily from the clinical findings, changes in hematologic data and hemoglobin electrophoresis. But the diagnoses of thalassemia carriers are cumbersome and sometimes need very sophisticated techniques of in vitro protein synthesis and DNA analysis. In this paper we review the laboratory methods and strategies for the diagnosis of thalassemia and abnormal hemoglobin commonly found in S E Asia.