17 Jul Why Testing Your Sickle Cell Disease Inheritance is Important
Did you know that sickle cell anaemia has been termed as one of the most common hereditary blood disorders today? Sickle cell disease is a serious and lifelong health condition, although treatment can help manage many of the symptoms. Could you have sickle cell disease inheritance and not know? That’s why it is essential to get tested If you haven’t been tested for sickle cell status before if you think you might have inherited sickle cell disease or if you experience any symptoms related to sickle cell disease.
If your heritage is from Africa, Middle East, Asia, eastern Mediterranean or Caribbean, you, your family and many people around you might be affected by sickle cell anaemia or have sickle cell disease inheritance. The estimated number of individuals with sickle cell anaemia in the UK is between 12,500 and 15,000. The number of sickle cell anaemia cases is increasing, due to population growth and immigration.
Haemoglobinopathies is the name given to a group of related conditions that affect the quality of haemoglobin and the capacity of red blood cells to carry oxygen around the body. Sickle cell disease or sickle cell trait is a group of “Haemoglobinopathy” disorders that not only alter the ability to bind oxygen but also the shape of the red blood cells themselves. Normally round and squishy, able to squeeze through the smallest blood vessels; in sickle cell diseases, the inherited mutation deforms the red blood cells to make them a rigid ‘sickle’ shape. These sickled cells can clump and block the small blood vessels resulting in organ damage and enormous pain even death.
Sickle cell disease can cause problems such as:
Sickle cell anaemia – This is a severe type of sickle cell disease and can occur at any age, although symptoms can be different depending on the age of the person affected. Common symptoms are excessive tiredness and anaemia, swelling of hands, feet and sometimes joints, episodes of severe pain, vulnerability to serious infections and progressive damage to the eyes, liver, heart and lungs.
Splenic sequestration – This means that there is a sudden pooling of sickle cells in the spleen, normally during or after an infection and can cause sudden and life-threatening anaemia.
Aplastic crisis – This can occur after viral infections and means that the bone marrow stops producing red blood cells. This condition can also cause sudden and severe anaemia.
Sickle cell trait, sickle cell carrier or Haemoglobin AS – It is possible for a person to be a carrier of the benign form of the disease, and not exhibit any symptoms or otherwise suffer from this condition.
Who needs a sickle cell test?
Newborn babies are tested for sickle cell disease and anaemia inheritance regularly shortly after birth. And this is because, within weeks of birth, infants with sickle cell disease can be more susceptible to severe infections.
Early testing helps guarantee that children with sickle cell disease are appropriately treated to safeguard their health.
Other individuals who should get tested for sickle cell disease and inheritance include:
- Anyone who has African, Middle Eastern, Asian, eastern Mediterranean or Caribbean heritage
- Anyone showing the sickle cell disease symptoms
- Couples who have African, Middle Eastern, Asian, eastern Mediterranean or Caribbean heritage and plan to have children soon
Why you should get tested
If you are likely to have a sickle cell disease or think that you may be a carrier/ have an inheritance of the disease that could affect any one of your children, it is crucial to understand your sickle cell status.
When you discover the status of your sickle cells through our home blood spot sampling test for sickle cell disease, you may be referred to a specialist hematologist for further testing and counselling about your condition.
The sickle cell disease test can be performed for newborns and high-risk individuals. It is essential to detect sickle cell trait for adults who would like to have children and may carry sickle cell trait. The test
- help to reveal if your baby is high risk for sickle cell trait
- help prove if your child is likely to be a carrier of sickle cell disease
- help to know if you have some inherited conditions
Sickle cell testing
Getting tested to know your sickle cell status is simple using our groundbreaking Sickle Cell Disease Home Blood Spot Sampling Kit.
Once you know your sickle cell status from doing the Blood Spot Screening Test for Sickle cell disease, your healthcare professional can refer you to a specialist genetic counsellor to further explain the significance of your condition. This test also informs you of your status for Haemoglobin SC disease and S beta thalassemia, two related conditions that also require medical treatment.
Get in touch with us if you are worried about the risk of passing sickle cell anaemia to your children or haven’t tested for your sickle cell status before.
MAP Sciences is the only provider that gives patients access to home blood tests kits for sickle cell disease. These tests do not exist elsewhere and give an inexpensive and easy solution to complicated and costly diagnostic tests that are accessible only in clinics and hospitals.