Difference between revisions of "Inherited Blood Disorder, family history of"
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====Autosomal recessive==== | ====Autosomal recessive==== | ||
− | May | + | May join the register if clinically asymptomatic |
===At CT/Work-up=== | ===At CT/Work-up=== |
Latest revision as of 11:32, 21 August 2013
Contents
Acceptability at Recruitment
QUALIFIED
Acceptability at CT / Work-Up
QUALIFIED
Individual at Risk
Recipient
Explanation of Condition
Inherited disorders of blood production include such disorders as Diamond-Blackfan syndrome, Schwachman-Diamond syndrome and congenital dyserythropoietic anaemia, as well as the inherited immune deficiencies such as Wiscott-Aldrich Syndrome. Please see separate guidance for Haemoglobin Disorders and G6PD Deficiency.
Potential donors with a family history of an inherited blood disorder may carry the genetic abnormality that causes the syndrome, even though they do not show symptoms of the illness. This abnormality may be passed on to the recipient of transplant where it may limit engraftment or otherwise cause clinical symptoms.
Guidance
Refer all cases to the medical officer.
Details of the inherited disease should be noted, including mode of inheritance as well as the underlying mutation, if known.
At recruitment
Autosomal dominant/X-linked
May join the register only if the potential donor has been tested for the causative mutation and found to not carry it, or if they have been told by a geneticist or haematologist that they do not carry the mutation.
Autosomal recessive
May join the register if clinically asymptomatic
At CT/Work-up
Autosomal dominant/X-linked
May proceed if the potential donor has been tested for the causative mutation and found to not carry it, or if they have been told by a geneticist or haematologist that they do not carry the mutation. The transplant centre must be told of the family history, regardless of any genetic testing or counselling.
Autosomal recessive
May proceed at the discretion of the requesting transplant centre
See also specific guidance for Diamond-Blackfan Syndrome, family history of
Version
Version 1, Edition 1
Date of Last Update
21st August 2013