Haemoglobin variants testing

Last updated: Wednesday, 05, December, 2007

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Item Process
Specimen

5-20 mL blood in EDTA tube.

MethodPCR-based analysis.
Application

The diagnosis of haemoglobin variants, when appropriate after clinical assessment, FBC and haemoglobin electrophoresis.

Prenatal diagnosis.

See also Sickle cell disorders.

Interpretation

Characterisation of specific haemoglobin variants eg, Hb E, Hb D, Hb Lepore.

Prenatal diagnosis for at-risk pregnancies.

Reference

Weatherall DJ. Mol Med Today 1995; 1: 15-20.