Inherited Blood Disorder, first degree relative with - Revision history

Dr Robert Lown: /* Autosomal dominant/X-linked */

2013-08-21T11:53:30Z

Autosomal dominant/X-linked

Dr Robert Lown: /* Explanation of Condition */

2013-08-21T11:49:07Z

Explanation of Condition

Dr Robert Lown: Page created

2013-08-21T11:35:04Z

Page created

New page

==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 Disorder]]s 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

@@ Line 31: / Line 31: @@
 ====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.
+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.
 ====Autosomal recessive====

@@ Line 9: / Line 9: @@
 ==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 Disorder]]s and [[G6PD Deficiency]].
+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 Disorder]]s 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.