**Mutation testing:**

PGD method to diagnose beta thalassemia was initially reported in 1998 and used either denaturing gradient gel electrophoresis or restriction enzyme digestion methods to perform the mutation analysis. The possibility of misdiagnosis due to allele drop out (ADO) and DNA contamination is considered to be the major problems associated with preimplantation genetic diagnosis [3]. Recently, the European Society of Human Reproduction and Technology (ESHRE) recommends doing both direct and indirect mutation testing using short tandem repeat (STR) linkage analysis to achieve the highest accuracy rate [4].

## *1.1.2 Assessment of iron overload in thalassemia*

	- serum ferritin;
	- liver biopsy for liver iron content (LIC);
	- echocardiography, MUGA for cardiac iron; and
	- MRI T2\* for LIC and cardiac iron.
