Dear laboratory colleague,
Together with genetic information, carrier diagnostics is the most important element of every strategy that enables prevention of severe illness in the progeny of healthy couples who are carriers of hemoglobinopathies (HbP's).
The common pathologies: Rare or complex mutants or combinations of defects are regularly observed in The Netherlands (Click here for our last publications). However, the pathologies that can be frequently expected from defects of the globin genes are caused by common mutants such as b-thalassemia, a-thalassemia, HbS, HbE, HbC and HbD Punjab.
Carrier detection for the common mutants can be accomplished in central laboratories by using a standard laboratory protocol.
Click here for a simple standard protocol and interpretation of results.
Do not let your positive results get lost but use them for prevention! Please add the following information for the clinician to your laboratory diagnosis:
Click here for standard information to add to positive results.
Alternatively you may choose to refer your cases to specialised laboratories. For consultancy and/or diagnostic assistance you are welcome to contact us.
We are equipped with the technology and the know-how, which are required for complex HbP diagnostic and research. The Klinisch Genetisch Centrum Leiden does not debit costs for diagnostic analysis to the requiring laboratory but directly to the patient's insurance.
Click here to read or download the instructions for sending a sample.
Click here to view or download a request form.
Head of the Hemoglobinopathies Laboratory