Inherited Blood Disorder, first degree relative with

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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 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.

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, and has a normal full blood count.

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