Profile Banner

Laboratory Medicine & Molecular Diagnostics

Thalassemia

Parameter Method Sample Type Significance

1

α Globin

PCR-Hybridization

Blood

Detection of 21 common u-Globin gene mutations

2

β-Globin MED

PCR-Hybridization

Blood

Detection of 22 mutations covering >90% of ß-Globin defects found in Mediterranean countries

3

β-Globin IME

PCR-Hybridization

Blood

Detection of 22 mutations covering >90% of ß-Globin defects found in the Middle East and India

4

β-Globin SEA

PCR-Hybridization

Blood

Detection of 22 mutations covering >90% of ß-Globin defects found in Southeast Asia

5

β-Tha Modifier

PCR-Hybridization

Blood

Testing for 5 polymorphisms associated with severity of ß-Thalassemia