I had a few questions

[Jasonfaram17]

My nan had sickle cell anaemia, she pasted away from it in 2003 aged 59, however now I am 17 turning 18 soon i wanted to look in to it abit more. As far as I know I understand that it's on my dads side. My dad has never been tested for it and only found out my nan had sickle cell anaemia shortly after her death. At the time the hospital was really unsure as to what was wrong with her, I don't know much about what happened as I say I was very young then.

But I just wanted to know is there a chance of me getting sickle cell anaemia, or God for bid my dad becoming ill by it. As far as I know my nan is the only one in the family to have become ill by this, my mums side has nothing and I've looked up that both parents require the sickle cell trait for it to become sickle cell anaemia.

My nan had two brothers and both are healthy and do not seem to have any symptoms.

However nether Myself or my dad have experienced any symptoms but I just wanted to know if sickle cell can just develop and come with age or does it start early. I hope I don't sound silly or anything as I say I've learnt alot about it in the past few days and I just wanted to understand a bit more. And I am worried for myself but more so for my dad as he is 52 and well I have read the NHS website and the part about the life expectancy worried me a lot

If anyone has any info please it would mean a great deal.

Jason faram 18

[erica14]

If your dad doesn't show signs (he should have been diagnosed at birth, but then again, he can get tested now), then it may have skipped him. I have sivkle cell trait from my dad's side, but my brother doesn't have it. My grandparents both had sickle cell trait, and a few of their kids had either sickle cell anemia or sickle cell trait. So, I believe you have to have been born with it, to get full sickle cell anemia. If your dad has had (which I'm assuming he has) multiple blood drawings, Drs would be able to see if he has it. But you can always go to a specialist good luck with finding out more information hope you have an awesom day

[bluebug]

For you to have sickle cell anaemia both your parents need to have it. You stated clearly that only one of them, your dad, could have it which means you would never have full sickle cell disease but could have sickle cell trait.

You don't say what country you are in or roughly where in the country you are, but I know that everyone under 25 in major cities of the UK who is non-White is tested for sickle cell anaemia and sickle cell trait at birth. So all you need to do is go to your GP and ask them what your test results say.

If you are mixed raced by having one black grand parent or great grandparent you may not have been tested. So ask for a test explaining your grandmother died of sickle cell disease. The doctor may be reluctant to test you but if you do lots of exercise explain you don't want to die from heat induced exercise exhaustion, or if you want to scuba dive or mountain climb you don't want to die due to changes in pressure. The doctor may laugh at you but explain politely these are major issues for those with sickle cell trait and insist on being tested.

Another way to get tested is to become a blood or bone marrow donor. However ideally you should be donating blood or on the bone marrow list because you want to do it.

[bluebug in reply to bluebug]

I forgot to add I have had blood tests for other things since I was 16. Only when I became a blood donor in my late teens was I tested for sickle cell disease and trait. I was then sent a card informing me I had trait. My GP was suppose to be informed but when I had an ENT operation 4 years ago it was not included with my notes. They stated incorrectly I had all tests. The anaesthetist was horrified.

My brother had an ENT op 20 years before that and was specifically tested for sickle cell. My sister was tested when she went on the bone marrow register. My other siblings who never had operations or donated anything have never been tested so the people in my family born with sickle cell are due to lack of screening simply because the NHS can't be bothered. They have this attitude to all blood born genetic diseases that are prevalent in ethnic populations. They only started testing black new borns for sickle cell because it was costing the NHS due to being sued.

In the UK when blood tests are done they test for the minimal things possible and do not test for sickle cell unless they are asked to do so, so your dad may not know if he has trait.

[Ladiflexxa]

Hi. As Stated Already Both your Parents need to have Trait for you to have Sickle cell disease, it's Something you are Born with. Most Doctors/Hospitals Test for Sickle cell disease these days in Uk if you are from Afro Caribbean Culture but I Do know of 1 case a Caucasian boy getting through blood transfusion

[DMBBMS]

Afternoon all, as already outlined unless both patents are at least be carriers of a sickling haemoglobin variant then there is no chance of you having sickle cell anaemia or disorder.

Most developed countries now have a Newborn screening program, but has only been in place since 2004 and later in other areas such as Wales for example. They only screen for disorder forms of Haemoglobinopathies (which sickle cell anaemia falls into) or Thalassaemia major disorders.

Most patient's who carry haemoglobin S (have one copy of the gene) are assymptomatic and may present with a "normal" full blood count and may not get reflexed for follow up testing unless there are other pointers such as a family history. Whilst your mothers side has no symptoms therefore it doesn't mean that they don't carry the gene.

In the unlikely event you have two Hb S genes it's something that develops at very early age (sometimes 6 months when the Hb S begins to be produced) and usually requires medical management to reduce symptoms and to prevent sickle cell "crisis".

However this doesn't mean you do not carry one of the Hb S genes (carrier). Most Hb S carriers are completely healthy and will have no adverse affects in the majority of situations.

If you want clarification then as suggested speak to your primary care health supplier, in the UK your GP, and ask for referral testing for haemoglobinopathy screening, this will then be screened not only for Haemoglobin S but all other Haemoglobin variants (and thalassaemias) which may lead to sickle cell disorders, if you are found to carry any of these genes a trained and qualified genetic counselor will then go through the effects and outcomes with . This will allow you to have peace of mind and to allow for appropriate awareness when considering conception choices in the future.

Ladiflexxa - As to somebody getting it from a transfusion they MAY have been transfused a unit donated from a sickle cell carrier however this is ever increasingly unlikely due to pre-testing, screening questions and appropriate blood filters used in the donation and processing of blood units. This doesn't transmit Sickle cell as these cells will then turnover and be removed from circulation in at most 100 days

In response to NHS "not being bothered" from bluebug doesn't sit easy.

The NHS or more specifically the UK antenatal program for sickle cell and thalassaemia and it's off shoot of Newborn screening has only been in place since 2004 and whilst the UK was woefully lacking until this point major steps and processes have been placed to assist in the accurate diagnosis and follow up of such patients, this is as long as all pre-analytic checks have been performed correctly such as correctly asking and answering screening question in ANC booking by midwives, completion and labeling of samples and request forms and compliance of patients with the screening program itself as it's purely voluntary and part of their consent.

We currently have approximately 3% no return of parents when informed of a significant haemoglobin variant that may lead to a disorder in children, so apologies on behalf of the NHS if you feel your family hasn't been appropriately dealt with but hopefully many measures are now in place to reduce such feelings.