Haemoglobinopathy/Thalassaemia Screen

Haematology

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Description

The Haemoglobinopathies are categorised into two main groups: the Haemoglobin Variants and the Thalassaemias. The Haemoglobin Variants (or Abnormal Haemoglobins) are a product of alteration in the globin protein structure, while the Thalassaemias are caused by under production of structurally normal globin protein.

Haemoglobinopathy/Thalassaemia Screening collates information from the FBC, Capillary Electrophoresis, ZPP, Sickle test and Gel Electrophoresis tests into a cohesive and accurate report on the patient’s haemoglobinopathy status, and in the ante-natal setting, can provide an indication of any risk to the fetus and ensure that this vital information is provided to the ante-natal team in order that the patient may be appropriately managed.

The NHS Sickle Cell and Thalassaemia Screening Programme requires that we are able to identify HbS, HbC, HbE, Hb D-Punjab, Hb O-Arab and Hb Lepore, but over 1300 Hb variants have been discovered, some of which can have altered Oxygen affinity or reduced stability. At Sheffield Teaching Hospitals NHSFT we use a Mass Spectrometric method to give a definitive identification of almost any Haemoglobin variant and have discovered several novel variants not previously described.

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Indications

Sheffield is a ‘high prevalence’ trust as defined by the NHS Sickle Cell and Thalassaemia Screening Programme so all Ante Natal patients are offered Haemoglobinopathy Screening. We also undertake pre-selected screening from other ‘low prevalence’ areas.

Pre-operative sickle screening

Some Haemoglobin variants can interfere with other tests such as HbA1c measurement and alternative methods may be required for these patients.

Unexplained erythrocytosis

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Sample Type

Whole blood (EDTA 4.0ml Lavender)

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Reference Range

HbA2 1.5 - 3.4%, HbF <2.5%, ZPP 30-80 umol/mol Hb

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Turnaround Time

Within 2 days

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Testing Frequency

Mon-Fri

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External Notes

Patients with a clinically significant haemoglobinopathy will be issued with a card.

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References

NHS Sickle Cell and Thalassaemia Screening Programme: Handbook for antenatal laboratories version 4.2. October 2017

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Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.