Thalassaemia

Pre-marital screening advice

It is important to think about various aspects prior to selecting a spouse. We tend to focus on these including the person themselves, their character, family and if they are compatible with us. One area often ignored is health, and specifically genetics. It is important to also take this into account as it has an effect on the children born following this marriage and impact on the family as a whole.

What are the threats faced within our community?

There has been a lot of discussion about genetics and cousin marriages in the past particularly surrounding the issue of Thalassaemia. Having looked at the recent evidence, it is clear that Thalassaemia is a threat to our community as we estimate that 9 in every 100 people carry the gene for Thalassaemia in our community. This is based on data over the last 20 years collected by the Medical Advisory Board of the World Federation. This is significantly higher than the population rate of 3 in every 100 (in the UK). The risk is also increased by the following factors:

1. Small gene pool- there is only ~150,000 khojas in the world and most marriages take place within the community. This increases the likelihood of 2 carriers meeting in matrimony.
   
   
2. Cousin Marriages- Though rare, cousins, especially first cousins can share up to 12% of their genes hence increasing the chances of genetic disorders to offsprings significantly.
   
   
3. Ethnicity- A number of studies shows that Thalassaemia is linked to ethnicity and genetics disorders are generally higher in Asian ethnic groups. It is also thought to have a higher rate in areas of malaria prevalence such as East Africa as it has a protective feature.

Thalassaemia carriers (Thalassaemia minor) are often well and not aware of their carrier status unless they have been tested. This requires a simple blood test. Thalassaemia is only inherited and not caught and only those with both recessive genes (Thalassaemia Major) are ill from birth and need medical treatment such as blood transfusions on a routine basis. They also suffer from other complications such as frequent infections, iron overload needing painful overnight medication drips, increased risk of HIV and hepatitis B and so on. It also affects the families and the community at large apart from the cost of frequent treatment and suffering of the affected child.

All this is easily prevented by having a blood test to find the carrier status of both prospective spouses and avoiding a marriage between 2 carriers as it leads to a 1 in 4 chance of Thalassaemia major for each pregnancy. Marriage between a carrier and no-carrier is fine as there are no chances of having a Thalassaemia Major Child.

The second threat is that faced by the general population in regards to HIV and blood bourne viruses such as hepatitis B and C. These viruses can be deadly and even though there is effective treatment for HIV, Hepatitis B & C has no effective cure. They are transmitted sexually and via blood transfusions and the infection rates are higher than ever. It is important for each prospective spouse to safeguard themselves against such infections and there should be no taboo in asking for these tests to be carried out for both the boy and the girl by their families. In fact, it should be common practice as I am sure that each family values their child and want to make sure that they don’t get exposed to such infections.

What is Pre-marital Screening and why is it important?

Pre-marital screening is a basic health check which is done prior to a marriage to safeguard the couple and to give them enough information to make future informed reproductive choices. It requires each partner to undertake a test for a full blood count, iron levels and a haemoglobinopathy (Thalassaemia) tests together with a HIV test as a minimum. Other tests such as hepatitis screen and other genetic conditions common in the families can be added where necessary.

It is important as it provides a safeguard against sexually transmitted infections and enables the couple to make informed reproductive choices.

How can I be tested?

Testing can be done via your family doctor or a local clinic anywhere in Europe. In some cases, the tests are free and confidential. They don’t affect the premiums for insurances and are not disclosed to insurance companies. HIV tests are routinely done on many patients with severe infections, illness and in pregnancy.

Patients from abroad (not from Europe) can be tested privately at a small cost and most Jamaats have a local set up which they can advice you about.

What about the ethics surrounding such screening?

There has been several discussions regarding the ethics surrounding such testing. In the COEJ region, it was concluded that all Jamaats will provide facilities to check that such testing has been done prior to a nikah or will

expect both the bride and groom to obtain enough information via the Jamaat about the screening so that they are making an informed choice if not being tested. The jamaat expects the couple to share the results between them without disclosing it to the jamaat officials or their families if they choose to do so. There are 3 issues around ethics which have been considered:

1. Confidentiality- We don’t plan to see the results of the tests but request that a certificate that the test has been carried out is given to the Jamaat officials prior to the marriage. The Jamaat official will ask the families if they are satisfied the results have been shared and that they understand the results and its implications.
   
   
2. Right of refusing testing- The bride and /or the groom have the right to refuse testing. In any such event, the Jamaat will provide information as to why it is important to be tested and may ask the bride and groom to sign a disclaimer that they choose not to be tested and that they have been educated on the risks of not testing but choose to do so.
   
   
3. Impacts to future Insurance- Under current legislation, results of genetic tests or negative HIV test is often not disclosed to Insurance companies and are not considered in the risk assessment process.

Please find below a leaflet on Thalassaemia which highlights the risks and some medical information about this condition. Should you need any further information, please email This email address is being protected from spambots. You need JavaScript enabled to view it. or This email address is being protected from spambots. You need JavaScript enabled to view it..

 Information leaflet on Thalassaemia.