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Alpha Thalassaemia Disease Home Blood Spot Sampling Kit

£49.00

Just one blood spot needed
Simple to use kit
Comfort & privacy of your own home
Results analysed using the latest laser technology
Complete confidentiality of results
Quick turnaround of results for your complete peace of mind

About

Alpha thalassemia is a genetic condition that belongs to a group of blood disorders known as haemoglobinopathies. Red blood cells are made up of a protein called haemoglobin, that transports oxygen from the lungs to all the tissues of the body. Structurally haemoglobin is a complex protein consisting of two alpha globins and two beta globins. Defects in how much of these two types of globins are produced disrupt the ratio within the complex and lead to a type of blood disease called thalassemia. This means that since there is reduced production of haemoglobin, the body’s ability to transport oxygen (and remove carbon dioxide) is reduced.

The main effect is a condition called anaemia and increased tiredness, but some other more serious conditions that may arise, depending on the number and nature of the defective genes. Alpha thalassaemias are most common in South-Eastern Asia, Southern China, and the Arabian Peninsula, but are also seen in the Indian sub-continent and Africa.

Types of
Alpha Thalassaemia

Alpha thalassaemia minima – The person has one faulty gene and does not suffer from any symptoms. This person is a carrier, so it is important to know this for any children they may have in the future.

Alpha thalassaemia minor – The person has two faulty genes and tends to suffer from mild anaemia.

Haemoglobin S/ HBH disease – This person has three faulty genes and the disease is severe or chronic anaemia. The patient is likely to need regular blood transfusions throughout their lives to continually ‘top-up’ their blood with normal haemoglobin.

Alpha thalassaemia major/ Hb Bart syndrome – All four genes in the alpha protein are faulty, causing the most severe form of alpha thalassemia. This set of gene mutations is also known to cause hydrops fetalis, a dangerous condition that causes the body of a fetus to swell up with the accumulation of fluid and can be fatal for the fetus if left untreated. A baby’s haemoglobin is different to an adult, but as the baby will not be able to make normal haemoglobin because of having four defective genes, the baby is unlikely to survive, even with blood transfusions.

The genetics of not having enough alpha globin (alpha thalassemia) or not enough beta globins (beta thalassemia) is complex, especially since we have four copies of the alpha globin gene and only two copies of the beta-globin gene, which means that alpha thalassemia can generally be tolerated by the body as a silent defect with no symptoms.

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Why test?

Using the Home Blood Spot Sampling Kit to screen for Alpha thalassemia is a simple and convenient way to know your status for this condition.  Once you know your status, you will be able to discuss your results with a healthcare professional or your doctor, who will be able to offer information, further tests and appropriate treatment.

– This is a screening test for research purposes only –

£49

Inheritance of

Thalassaemia

It is important to know your status if you are planning to have children so that you have the opportunity to speak to your doctor and discuss any tests that you and your partner may need to know the likelihood of passing the condition on. Both thalassemia intermedia and thalassemia major inherited follow an autosomal recessive pattern, which implies that both copies of the HBB gene have mutations in each cell. Each parent with an autosomal recessionary condition has a copy of the mutated gene but typically show no signs and symptoms.

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