Redirected Referrals

Sickle cell / thalassaemia

Haemophilia

Other inherited bleeding disorders/thrombophilias

Hypercholesterolaemia

Alpha 1 antitrypsin

Around 1 in 10 people in the population are carriers for Alpha 1 antitrypsin (AAT) deficiency (around 1 in 25 people carry the Z allele, around 1 in 17 carry the S allele). AAT is a recessive condition, such that both parents must be carriers for a child to be at risk of inheriting the condition, with ZZ being the most potentially affected. However, it is a very variable phenotype.

Given the high frequency of carriers in the population, we do not routinely carry out carrier screening in families. If adults in the family are concerned, their GP can test their levels of alpha 1 antitrypsin. In families where both parents are carriers, they may be referred to the genetic department to discuss risks and implications for their children.

The most important advice in families is to avoid smoking, being in smoky areas, and other lung irritants. Even where an individual inherits two altered alleles, the majority of such individuals do not have any clinical problems providing they don’t smoke.

Further information about AAT can be found at: http://www.nlm.nih.gov/medlineplus/alpha1antitrypsindeficiency.html

CF

CF is a common genetic condition and 1 in 25 of the population is known to be a carrier. It is inherited in a recessive pattern so both parents have to be carriers of the condition for them to have an affected child. It is quite appropriate for carrier testing to be done through the GP surgery or midwifery services and you can access more information about how to do this in the useful form section.

Please send us 5-8ml in an EDTA bottle. If there is an affected family member, please ensure that the relative’s name and date of birth are on the form so the lab team are sure they are testing for the correct gene mutation. It is also important to include the ethnic group of the patient. The sample can be transported here via the pathology lab collection service at your local hospital, and you will not be charged for the testing.

If the patient and his/her partner are both found to be carriers of CF, we would be happy to see them to discuss their risk and options for the future in any pregnancy that they have together. Please see the Cystic Fibrosis Carrier testing leaflets that a patient may find useful.

Joint hypermobility syndrome (formerly EDSIII)

Joint hypermobility occurs in between 10% – 20% of individuals in populations of Western origin. A significant proportion of these people will have symptomatology associated with this and will be described as having joint hypermobility syndrome. Please see the diagnostic criteria.

We are not able to see these patients in the genetic service as a routine. We are happy to see patients where they have additional features and there is a possibility that they may have of one of the rare forms of Ehler’s Danlos syndrome; isolated hypermobility in general is not a major feature of these however. There is no gene testing available for joint hypermobility syndrome (sometimes referred to as EDS type III, though Joint Hypermobility Syndrome is now the preferred term).

Joint Hypermobility Syndrome referrals should be directed to rheumatology where they are better placed to provide specialist physiotherapy advice and help with management of the joint problems. We are happy to continue to see patients in the first 5 years of life where joint hypermobility may represent part of an underlying neuromuscular or developmental condition.

A useful resource for families is The Hypermobility Association, for individuals where there are major problems occurring outside the musculoskeletal system, referral to the National Ehler’s Danlos Syndrome Service in Sheffield can be considered.

Haemochromatosis

Around 1 in 9 people in the population are carriers of haemochromatosis and would not be expected to have any particular health problems as a result of this status. It is a recessive condition, such that siblings of affected adults will be at 25% risk of also having the condition. Given the high frequency of carriers in the population, we do not now routinely carry out carrier screening in families in this department. If adults in the family are concerned, it is appropriate for the GP to test their iron levels (serum ferritin levels, and serum transferrin saturation levels) and will show the individual’s current status. Genetic tests can also be organised to identify carrier status, usually by sending 7ml blood in an EDTA bottle, after discussion with the pathology department about the local process.

Both parents must be carriers of haemochromatosis for their offspring to be at risk of inheriting the condition. In families where both parents are carriers, they may be referred to the genetic department to discuss risks and implications for their children. Testing children for their status is generally agreed to be inappropriate, as this is an adult onset condition, and is best left until they are adults and able to consent themselves.

Further information about haemochromatosis can be found at:

http://www.geneticseducation.nhs.uk/genetic-conditions-54/659-haemochromatosis-new

MTHFR

MTHFR C677T and A1289C polymorphisms are common in the general population and may be associated with susceptibility towards a wide range for conditions or traits. However, these polymorphisms do NOT result in the classical MTHFR deficiency and are NOT causally linked with any other disorder. For this reason, genetics laboratories in the NHS generally do not offer diagnostic testing for these polymorphisms, even though a number of private companies have these polymorphisms on their test panels. Based on our current knowledge, we are unable to add any clinically useful and medically actionable information in such cases. If you have concerns about the possibility of raised homocysteine levels in your patient, then we would suggest a referral to the adult metabolic specialists in Salford Royal Hospital.

Deafness

For childhood referrals, these should be deferred until the investigations recommended by the British Association of Audiovestibular physicians are completed. Guidelines are available for unilateral, mild to moderate and severe deafness. Please include copies of the investigation results with the referral. For bilateral congenital deafness, this will include gene testing for connexion 26 mutations in all cases, which can be arranged by the audiovestibular physicians.

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