Screening for sickle cell and beta thalassaemia

What kinds of information do people want?

People facing decisions about screening and diagnosis for sickle cell and beta thalassaemia will differ greatly in their previous knowledge, and also in their personal preferences for the amount and type of additional information they want. Identifying and responding to these individual preferences is a key task for health professionals. 

Here we examine some of the commonly expressed information requests, and also some differing views.

Information about inheritance and being a carrier
The most pressing information need is to explain to people that carriers are healthy and do not have the condition, and that the baby is only at risk if both parents are carriers. This is important for two reasons. Firstly, people who discover that they or their baby are carriers need to be reassured that they are not ill. Secondly, it is important for explaining to people why partner screening is recommended. Some partners felt they could not be a carrier if they were fit and healthy and so did not think they needed to be screened. (See 'Partner carrier screening').

Although most people who are carriers are generally in good health, there are some possible health effects they need to know about. There is a risk to sickle cell carriers of "sickling" under situations of very severe oxygen deprivation. The situation that people are most likely to encounter is oxygen deprivation during anaesthesia. If deep sea diving or mountain climbing, the individual should make sure that they are well oxygenated but they do not have to avoid these activities. 

A few people who are beta thalassaemia carriers find they get tired and anaemic sometimes. This has no serious effect on the person's health, but it may help their doctor to know they are a carrier. Some women who carry beta thalassaemia become more anaemic when they get pregnant. Carriers of beta thalassaemia need a special blood test (serum iron or serum ferritin test) to diagnose iron deficiency and should only take iron medicines if this test shows a shortage of iron in the blood. If a doctor does not know that a person is a beta thalassaemia carrier they could prescribe iron medicines which could in the long run do more harm than good.

For these reasons, carriers are usually advised to carry a 'haemoglobinopathy' card to show to health professionals, stating that they are a carrier. Some people we talked to still had unanswered questions about being a carrier or about why they should carry a card, even though they understood that in general their health would not be affected.

Some women wondered whether they were anaemic in pregnancy because they were sickle cell carriers. There is no evidence that this is the case, and women may need reassurance to prevent them feeling anxious.

It may help some parents to be told that being a carrier does have some health advantages. Being a carrier of either condition offers some protection against malaria, and there is some evidence that being a thalassaemia carrier reduces the risk of coronary heart disease.

Information about the conditions
Some people had heard of sickle cell disorders or beta thalassaemia major before screening, while others had not, or knew very little. Several people said they had believed people with sickle cell anaemia rarely survive into their twenties. (See also 'Understanding the conditions'). One man described how his counsellor could compare experiences in Africa and Europe, and explain the difference good medical care can make.

Staff have a difficult balance to strike between ensuring people understand the possible severity of the conditions and the complications that their child may face, but also explaining the treatment and support available to give people the best possible quality of life. This task is made all the more difficult because the impact of the conditions on each individual is unpredictable. 

One mother who herself has SC disorder felt staff could have given her more positive examples of people with sickle cell anaemia living fulfilling lives and managing their condition well. (See 'Advising people about their options'). However, she also agreed with most people's view that it was important to 'know the worst' - to have a clear explanation of all the possible outcomes, even if it was painful at the time. 

But some people found it difficult to absorb the information and realise its significance, as one Bangladeshi mother explained.

One father wanted to talk to someone who could tell him at first-hand about their experiences, but it was quite difficult to find anyone, even with the help of a local support group. 

Another couple did get in touch with a man with beta thalassaemia major after prenatal diagnosis showed their unborn baby was affected, but they were wary about how relevant other families' experiences would be for their own situation. 

Although in some ways they wanted to 'know the worst', they were also concerned that any information they obtained should be evidence-based and up-to-date. Sometimes they felt, “You can absolutely drive yourself crazy by things that you will read.”

Clarity of information
There were many comments about the need to provide information in clear, understandable language, avoiding complex medical terms if possible, but also ensuring the information was detailed enough to be useful. 

See also  'Explaining genetics and risk', 'Communicating results' and 'Sources of support' for further comments on the way information is presented. These comments suggest people like visual aids such as diagrams or videos, and like to be able to discuss the information face-to-face so they can ask questions - if possible in their own language. At the same time, as Interview 09 suggests above, it helps to have written information to keep and refer to as well.

Last reviewed September 2015.
Last updated September 2015.

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