Diagnosing Sickle Cell Disease

Authored by Dr Laurence Knott, 01 Nov 2017

Patient is a certified member of
The Information Standard

Reviewed by:
Dr John Cox, 01 Nov 2017

The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is present in the blood.

The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is present in the blood (using a test called haemoglobin electrophoresis or other methods). This can diagnose most cases of sickle cell trait and sickle cell disease (SCD). Sometimes, the result is unclear and extra tests such as DNA (genetic) tests are needed.

Policies for screening pregnant women and babies vary throughout the UK - see the 'Sickle cell and thalassaemia screening: programme overview' link in 'Further reading & references', below.

Tests for pregnant women

If the result shows that you carry a sickle cell gene then a test is also offered to the baby's father (if possible). The results of both parents' tests will help to decide whether your baby could be affected by SCD. The results will be explained to you.

If there is a chance that the baby could inherit SCD, you will be offered counselling to discuss whether you would like to have a further test for the unborn baby (a prenatal test). A prenatal test finds out whether the unborn baby actually has SCD. If so, you will be offered counselling to discuss how this could affect the baby and whether you want to continue with the pregnancy.

Would SCD make my baby ill during pregnancy?
No; it does not affect the baby while in the womb. Symptoms start from around age 3 months, and treatment for SCD should begin by this age.

When is the best time to have a test?
If you are pregnant, the ideal time to have a sickle cell blood test for yourself is before you are 10 weeks pregnant. This allows more time to test your partner or your baby, if needed. You can ask your doctor for a test early in pregnancy if it is not already offered to you at that time. However, tests can still be done at a later stage.

A prenatal test (on the unborn baby) can be done from 10 weeks of pregnancy onwards, depending on the type of test used. The usual tests offered are chorionic villus sampling (CVS) or amniocentesis.

Should I and my partner have tests before starting a family?

Women or couples may want to be tested for sickle cell trait before starting a family, especially if their family origins make sickle cell trait more likely. The UK's Sickle Cell Society and many health professionals encourage awareness of sickle cell trait and early testing. You can ask your doctor for a sickle cell test.

The advantage of having tests before you become pregnant is that you will know whether or not there is a possibility that your baby could inherit SCD. This may be helpful when making decisions about pregnancy. For example, you may want to have a prenatal test during pregnancy if there is a risk of SCD for the baby.

The current recommendations are that women who are undergoing tests for infertility and women who are receiving infertility treatment should be tested for sickle cell trait.

Tests for newborn babies

In the UK, all newborn babies are offered a bloodspot test at 5-8 days after birth. This tests for a number of medical conditions which are considered important because early treatment makes a difference. The test is done by taking a small spot of blood from the baby's heel. The bloodspot test now includes testing for SCD throughout the UK. You will be given the results about six weeks later.

If the baby has sickle cell trait, no action or treatment is needed. If the baby has SCD, the result will be explained. You will be given a clinic appointment to check the diagnosis and to start treatment. Treatment should begin by the time the baby is 3 months old.

Further reading and references

I was scratching my leg in the shower the other day... I got out of the shower just this morning and i see a rash. I look a little closer and I realize it is a blood bruise rash. I hop on google and...

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