Frequently Asked Questions

Sickle cell disease is an inherited blood disorder where red blood cells become misshapen (sickle-shaped) and break down, causing pain, organ damage, and reduced oxygen delivery throughout the body. It's caused by a genetic mutation in the haemoglobin gene.

Pre-marriage testing allows couples to:

• Know their genetic compatibility

• Make informed family planning decisions

• Seek genetic counseling if both are carriers

• Plan for potential medical needs

• Avoid the emotional trauma of having affected children

Most medications don't affect HPLC results for sickle cell testing. However, recent blood transfusions can temporarily alter results. Ideally, 6 months after transfusion before sickle cell testing.

Yes, this requires serious consideration and genetic counselling. There's a 25% chance each pregnancy could result in a child with sickle cell disease, which significantly impacts quality of life and lifespan.

• Sickle cell trait (AS): You carry one sickle cell gene and one normal gene. You are generally healthy but can pass the gene to your children.

• Sickle cell disease (SS): You have two sickle cell genes, causing the full disease with symptoms like pain crises, organ damage, and shortened lifespan.

Sickle cell is inherited in an autosomal recessive pattern. Both parents must carry the gene for children to have the disease:

• If both parents have sickle cell trait (AS), each child has a 25% chance of having sickle cell disease (SS)

• If one parent has SS and the other is AA, all children will have AS (trait)

• If one parent has AS and the other is AA, each child has a 50% chance of having AS

• AA: Normal haemoglobin (no sickle cell genes)

• AS: Sickle cell trait (carrier)

• SS: Sickle cell disease

• SC: Sickle-C disease (milder form)

• S-beta thalassaemia: Combination of sickle cell and thalassaemia genes

Yes, but there's significant risk. When both parents have sickle cell trait (AS):

• 25% chance of AA (completely normal)

• 50% chance of AS (sickle cell trait)

• 25% chance of SS (sickle cell disease)

Sickle cell trait affects approximately 1 in 100 people of African or Caribbean descent in the UK, and varies by ethnic background. The disease is most common in people of African, Caribbean, Mediterranean, Middle Eastern, and South Asian ancestry.

People with sickle cell trait usually live normal, healthy lives. However, you can pass the gene to your children, and under extreme conditions (severe dehydration, high altitude), you may experience complications.

Currently, bone marrow transplant is the only potential cure, but it's risky and not suitable for everyone. Most treatment focusses on managing symptoms and preventing complications.

Ideally before marriage or when planning to have children. Many couples get tested during engagement or early marriage planning. If you're already pregnant, testing should be done as early as possible.

HPLC testing is over 99.5% accurate and is considered the gold standard by medical organisations worldwide. It can detect even rare haemoglobin variants that other tests might miss.

• HPLC (High-Performance Liquid Chromatography): Gold standard, most accurate, detects all variants, provides exact percentages

• Electrophoresis: Older method, less precise, may miss some variants

• Solubility tests: Only detect sickle haemoglobin, can't distinguish trait from disease

• Rapid tests: Limited scope, often require confirmation

You will get the results on the same day.

No, fasting is not required for sickle cell testing. It's a simple blood draw that can be done at any time of day.

You should seek genetic counselling to understand your options, which may include:

• Accepting the 25% risk per pregnancy

• Considering prenatal diagnosis during pregnancy

• Exploring assisted reproductive technologies

• Considering adoption

• Making informed decisions based on your values and circumstances

Yes, prenatal testing through amniocentesis or chorionic villus sampling (CVS) can detect sickle cell disease in unborn babies, typically performed between 10-20 weeks of pregnancy. Our clinic does not offer this service and should discuss with your GP.

Be honest and educational. Explain that sickle cell trait doesn't affect your health but is important genetic information. Encourage relatives to get tested, especially if they're planning families.

• Inform family members who may also be carriers

• Ensure your partner gets tested

• Seek genetic counseling if planning children

• Stay hydrated during physical activity

• Inform healthcare providers of your status

Yes, people with sickle cell trait typically live completely normal lives. The main consideration is family planning and ensuring your partner knows your status before having children.

NHS Genetic Counselling & Screening Services

1. NHS Sickle Cell and Thalassaemia (SCT) Screening Programme Offers antenatal and newborn screening to identify carriers and provide counselling for at-risk couples. Preconception testing is also available through GPs or local screening centres. w: https://www.sicklecellsociety.org/screeningprogramme/

2. Manchester Sickle Cell & Thalassaemia Centre (MSCTC) Provides person-centred care, including antenatal/prenatal genetic counselling, screening, and support for individuals and families. a: 352 Oxford Road, Manchester, M13 9NL t: 0161 529 6605 e: mft.manchestersicklecell@nhs.net w: https://www.manchesterlco.org/services/citywide-adult-community-services/msctc/

3. South East London Sickle Cell and Thalassaemia Counselling Services Offers counselling to pregnant women and biological fathers who are carriers, ensuring understanding and support. a: Mary Sheridan Centre, 5 Dugard Way, London, SE11 4TH t: 020 3049 5993 e: gst-tr.referralstosickle@nhs.net w: https://www.evelinalondon.nhs.uk/our-services/community/community-sickle-cell/counselling.aspx

4. UCLH Community Sickle Cell and Thalassaemia Services Provides comprehensive care, including genetic counselling, psychological support, and community outreach. a: 17a Hornsey Street, Holloway, London, N7 8GG t: 020 3316 8853 / 8854 e: ncl.redcellteam@nhs.net

w: https://www.uclh.nhs.uk/patients-and-visitors/patient-information-pages/community-sickle-cell-and-thalassaemia-services

National Charities & Support Organisations

1. Sickle Cell Society Provides information, support groups, and a helpline for individuals and families affected by sickle cell. t:

• Monday & Tuesday: 07842 245 980

• Wednesday: 020 8961 7795

• Thursday & Friday: 07809 736 089

e: info@sicklecellsociety.org

w:https://www.sicklecellsociety.org/helpline/

2. Sicklekan A platform raising awareness and providing support for sickle cell patients and their families through storytelling and partnerships. w: https://sicklekan.com/

3. Genetic Alliance UK A national charity supporting individuals with genetic conditions, offering information and advocacy. w: https://geneticalliance.org.uk/

Yes. We will give you the correct collection kit for your test, with instructions. Please use only the container we provide. Household containers such as jam jars or juice bottles cannot be accepted, and samples in them will not be tested.

Write the following on the container label (not the lid):

• Your full name
• Your date of birth
• The date and time you collected the sample

Unlabelled samples cannot be tested.

Do not stop any prescribed medication without first speaking to your GP or doctor. Some tests ask you to pause certain medicines, but your doctor must agree to this first. When you give your sample, please tell our staff about all medicines you are taking.

For swab, urine or stool infection tests, it is best to give your sample before you start antibiotics. If you have already started them, please tell our staff which antibiotic you are taking and when you started it.

• Check whether your test needs fasting: We will tell you when you book, and the FAQ for your test will also say.
• Drink plenty of water beforehand: Being well hydrated makes blood collection easier.
• Wear clothing with sleeves that roll up easily.
• Bring a list of any medicines you take.

The first urine of the morning gives the best result, unless we have told you otherwise.

1. Wash your hands with soap and water.
2. Separate the skin folds around the urinary opening. Wipe from front to back with a clean wet wipe, using a fresh wipe each time. Do this three times.
3. Keeping the skin folds apart, start urinating into the toilet and let the first part go.
4. Without stopping the flow, catch the middle part of the stream in the container until it is about half full.
5. Finish urinating into the toilet.
6. Screw the lid on tightly. Do not touch the inside of the container or lid.
7. Label the container with your name, date of birth, and the date and time of collection.

1. Wash your hands with soap and water.
2. Pull back your foreskin if you have one. Wipe the tip of the penis with a clean wet wipe.
3. Start urinating into the toilet and let the first part go.
4. Without stopping the flow, catch the middle part of the stream in the container until it is about half full.
5. Finish urinating into the toilet.
6. Screw the lid on tightly. Do not touch the inside of the container or lid.
7. Label the container with your name, date of birth, and the date and time of collection.

Please bring it in within 1 hour of collection. If you cannot, keep it in the fridge and bring it in within 4 hours.

Some containers hold a small amount of preservative. Do not empty or rinse it out. Collect your sample as normal. This type of container is usually given when a sample cannot be delivered on the same day.

It means collecting every drop of urine you pass over a full 24 hours in the bottle we give you. The test measures the total amount of a substance your body passes in a day. If any urine is missed, the result will be wrong.

• Choose a day when you are mostly at home, such as a day off or a weekend. If you go out, take the bottle with you.
• Check whether your test has food or medicine restrictions: Ask our staff if you are unsure which test you are having.
• Drink as much fluid as you normally would.
• If you usually pass a lot of urine (more than about 5 litres a day), ask us for a second bottle.

1. Day 1, when you wake up: Pass urine into the toilet and flush it away. Write this date and time on the label as the start time.
2. For the next 24 hours: Collect all your urine, day and night. Use the funnel, or pass urine into a clean, dry jug or bowl (not metal) and pour it into the bottle.
3. Day 2, at the same time (within 5 to 10 minutes): Pass urine one last time and add it to the bottle. Write the date and time on the label as the finish time.
4. Between uses, keep the bottle closed, cool and out of direct light.
5. Check that the cap is screwed on tightly. A bottle that leaks cannot be tested.
6. Bring the bottle in as soon as possible after you finish.

If you have been asked for two collections, start the second one in a new bottle the next time you pass urine.

Stop the collection. Start again on another day with a new bottle, and let us know. An incomplete collection gives misleading results, so it is always better to tell us than to hand in a partial sample.

If you need to open your bowels, try to pass urine into the jug first so that it is not lost.

• Never pass urine directly into the bottle: Use a clean jug, then pour the urine in carefully.
• Do not empty out the liquid.
• Avoid contact with your skin and eyes: If it touches you or spills, rinse with plenty of water.
• Keep the bottle away from children.

Yes. For 3 days before and during the collection, avoid:

• Fruit: avocado, bananas, pineapple, kiwi, melon, plums, citrus fruit and grapefruit, dried fruit, gooseberries, redcurrants
• Vegetables: tomatoes, aubergine
• Other: walnuts, chocolate, coffee, tea, alcohol, all fruit juices

Some medicines, including paracetamol, aspirin, some antidepressants and some muscle relaxants, can affect this test. Do not stop any medicine without your doctor's agreement. Tell our staff about all medicines you take.

Yes. For 3 days before and during the collection, avoid foods containing vanilla, tea, coffee, bananas, walnuts and citrus fruit. Tell our staff about any medicines you take.

Yes. For 2 days before and during the collection, avoid citrus fruit, bananas, chocolate, walnuts, coffee, tea and foods containing vanilla.

Some medicines, including blood pressure tablets, water tablets (diuretics), aspirin, paracetamol and MAO inhibitors, may need to be paused for 14 days before the collection. Only do this if your doctor agrees. Tell our staff about all medicines you take.

Yes. For 3 days before and during the collection, avoid cucumber, rhubarb, asparagus, spinach and tomatoes. Tell our staff about any medicines you take.

There are no food restrictions. Some medicines can affect this test: aspirin and disulfiram may need stopping 2 days before, and levodopa 2 weeks before. Only do this if your doctor agrees. Tell our staff about all medicines you take.

1. Label the container with your name, date of birth and the date of collection.
2. Catch the stool before it touches the toilet water. You can use a clean potty, a clean plastic food tub, or cling film stretched over the toilet bowl. The surface must be free of soap or disinfectant.
3. Make sure no urine, water or toilet paper mixes with the sample.
4. Use the spoon attached to the lid to put a walnut-sized amount (about half a spoonful) into the container.
5. Close the lid tightly, wipe the outside, and put the container in the specimen bag.
6. Wash your hands thoroughly with soap and warm water.

As soon as possible, as fresh samples give the most accurate results. If you cannot bring it in straight away, keep it in the fridge, sealed in the specimen bag, for no longer than 24 hours.

Some tests, such as those for parasites or hidden blood, are more reliable with 3 samples collected on different days. We will tell you if your test needs this.

Do not collect a sample while any of the following apply:

• You are having your period
• You have bleeding haemorrhoids (piles)
• You have had recent dental work that caused bleeding
• You are using rectal medicines

Wait until these have stopped. Tell our staff about any medicines you take.

Collect your sample while your symptoms are present. Do not collect during your period, if you have bleeding haemorrhoids, or if there is blood in your urine.

Yes. Semen samples need special handling, so all semen tests must be booked in advance. Please call 020 7126 8511 or email info@ejbio.co.uk.

Do not have sex or ejaculate for at least 2 days, but no more than 5 days, before giving your sample. If you need repeat tests, try to keep the same number of days each time.

We recommend producing your sample at our centre. If you collect at home, please tell us beforehand. The sample must reach us within 30 to 60 minutes. On the way:

• Keep it in an inside pocket, close to your body
• Do not refrigerate or heat it
• Do not shake or drop it

1. Wash your hands and genitals, rinse off all soap, and dry thoroughly. Water kills sperm.
2. Do not use lubricants, gels, oils or saliva.
3. Only open the sterile container when you are ready.
4. Collect by masturbation directly into the container. Catch the whole sample, especially the first part. Take your time; 10 to 15 minutes is normal.
5. Close the lid tightly. Do not use tape.
6. Label the container with your name, date of birth, and the date and time of collection.
7. Complete the patient information form and hand it to a member of staff with your sample.

Ordinary condoms must not be used because they harm sperm. If you cannot collect by masturbation, ask us about a special collection condom. If any of the sample is lost, please tell us.

Yes. Do not pass urine for 2 hours before your appointment. At the centre, the samples are collected in this order:

1. Urethral swab
2. Urine sample
3. Semen sample

• First sample: at least 16 weeks after your operation, and after at least 24 ejaculations.
• Second sample: 2 weeks after the first.

Keep using contraception until the doctor who performed your vasectomy confirms your samples are clear.

Our staff will take most swabs. To help get an accurate result:

• Urethral swab: do not pass urine for at least 1 hour beforehand.
• Ear swab: do not use ear drops or ear treatments for 3 hours beforehand.
• Throat swab: morning is best, before eating, drinking or brushing your teeth.
• All swabs: if possible, have the swab taken before starting antibiotics.

Many results are available the same day. Tests sent to our partner laboratory usually take 2 to 3 working days. Culture (infection) tests can take longer if extra checks are needed. We will tell you the expected time when you give your sample.