National Haemoglobinopathy Reference Service

The NHRL offers a service for the identification of haemoglobinopathy genotypes by the molecular analysis of DNA and haematological investigation. This includes the investigation of difficult/complex phenotypes and the identification of carrier states for antenatal patients. It also offers a prenatal diagnosis service by fetal DNA analysis for sickle cell disease, α-thalassaemia and β-thalassaemia. Genetic tests for all known haemoglobinopathy mutations are available.

Disorder Test

Detection of deletions using Gap-PCR and MLPA. Detection of non-deletion α+ thalassaemia mutations by α-globin gene sequencing (pyrosequencing and Sanger)

β-thalassaemia Genotyping using ARMS-PCR, Restriction Enzyme-PCR, Gap-PCR, MLPA or DNA sequencing (pyrosequencing and Sanger)
HPFH and δβ-thalassaemia                 Detection of deletions by Gap-PCR, and MLPA
Sickle cell disease Genotyping by ARMS-PCR, Restriction Enzyme-PCR, Gap-PCR, MLPA or DNA sequencing
Hb Variants Identification by ARMS testing or α and β-globin gene sequencing (pyrosequencing and Sanger)
Prenatal Diagnosis of sickle cell disease, β-thalassaemia and Hb H/Bart's hydrops fetalis Available by prior arrangement with the laboratory



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Last updated 21 May 2018