Haemoglobin variants testing
Last updated: Wednesday, 05, December, 2007
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| Item | Process |
|---|---|
| Specimen | 5-20 mL blood in EDTA tube. |
| Method | PCR-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. |