Inherited Blood Disorder, first degree relative with
- 1 Acceptability at Recruitment
- 2 Acceptability at CT / Work-Up
- 3 Individual at Risk
- 4 Explanation of Condition
- 5 Guidance
- 6 Version
Acceptability at Recruitment
Acceptability at CT / Work-Up
Individual at Risk
Explanation of Condition
Inherited disorders of blood production include such disorders as Fanconi syndrome, Diamond-Blackfan syndrome, Schwachman-Diamond syndrome and congenital dyserythropoietic anaemia. 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.
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.
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.
May join the register if clinically asymptomatic
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, and has a normal full blood count.
The transplant centre must be told of the family history, regardless of any genetic testing or counselling.
May proceed at the discretion of the requesting transplant centre
See also specific guidance for Diamond-Blackfan Syndrome, family history of
Version 1, Edition 1
Date of Last Update
21st August 2013