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.
Sickle cell tests for pregnant women, babies and couples
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.
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
Sickle cell disease; NICE CKS, November 2016 (UK access only)
Sickle cell acute painful episode; NICE Clinical Guideline (June 2012)
Management of Sickle Cell Disease in Pregnancy; Royal College of Obstetricians and Gynaecologists (August 2011)
Guidelines on red cell transfusion in sickle cell disease Part II - indications for transfusion; British Committee for Standards in Haematology (2016)
Sickle cell and thalassaemia screening: programme overview; Public Health England, 2017
Oteng-Ntim E, Meeks D, Seed PT, et al; Adverse maternal and perinatal outcomes in pregnant women with sickle cell disease: systematic review and meta-analysis. Blood. 2015 May 21125(21):3316-25. doi: 10.1182/blood-2014-11-607317. Epub 2015 Mar 23.
PHE; Sickle cell and thalassaemia screening: programme overview, 2017.
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