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Alpha thalassaemia

Test Background
The haemoglobin in red blood cells is comprised of alpha globin and beta globin proteins. Thalassaemias are familial blood disorders that occur when there is a defect in a gene that helps control production of one of these proteins. There are many variants of thalassaemia, but alpha thalassaemia occurs when at least one gene related to the alpha globin protein is missing or mutated. The common alpha+ thalassaemia deletions (-3.7 and -4.2) and alpha zero thalassaemia deletions (SEA, MED, FIL and a-20.5) are screened for by GAP-PCR. When none of these are detected but the phenotype is strongly suggestive of alpha thalassaemia, we will endeavour to look for non-deletional mutations.

Clinical Indications
Alpha thalassaemia detection analysis is carried out in patients with haemoglobin red cell disorders with suspected genetic abnormalities of the globin genes.

Sample Required
EDTA (lavender top)

Sample Volume
1 mLPlease note, if the blood counts are abnormal (high or low white cell count), the volumes of blood should be adjusted accordingly.

Turnaround Time
10 working days

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