Inherited Blood Disorder, family history of - Revision history

82.45.134.242: /* Autosomal recessive */

2013-08-21T11:32:44Z

Autosomal recessive

← Older revision		Revision as of 11:32, 21 August 2013
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	====Autosomal recessive====		====Autosomal recessive====
	May ~~proceed at~~ the ~~discretion of the requesting transplant centre~~		May join the register if clinically asymptomatic

	===At CT/Work-up===		===At CT/Work-up===

82.45.134.242 at 11:32, 21 August 2013

2013-08-21T11:32:00Z

← Older revision		Revision as of 11:32, 21 August 2013
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	====Autosomal recessive====		====Autosomal recessive====
	May proceed at the discretion of the requesting transplant ~~centreSee~~ also specific guidance for [[Diamond-Blackfan Syndrome, family history of]]		May proceed at the discretion of the requesting transplant centre


			See also specific guidance for [[Diamond-Blackfan Syndrome, family history of]]

	==Version==		==Version==

82.45.134.242: /* Guidance */

2013-08-21T11:31:15Z

Guidance

← Older revision		Revision as of 11:31, 21 August 2013
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	Refer all cases to the medical officer.		Refer all cases to the medical officer.

	Details of the inherited disease should be noted, as well as the underlying mutation, if known.		Details of the inherited disease should be noted, including mode of inheritance as well as the underlying mutation, if known.

	===At recruitment===		===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.		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 proceed at the discretion of the requesting transplant centre

	===At CT/Work-up===		===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.		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====
	~~See~~ also specific guidance for [[Diamond-Blackfan Syndrome, family history of]]		May proceed at the discretion of the requesting transplant centreSee also specific guidance for [[Diamond-Blackfan Syndrome, family history of]]

	==Version==		==Version==

82.45.134.242: /* Explanation of Condition */

2013-08-21T11:27:42Z

Explanation of Condition

← Older revision		Revision as of 11:27, 21 August 2013
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	==Explanation of Condition==		==Explanation of Condition==
	Inherited disorders of blood production include such disorders as Diamond-Blackfan syndrome, ~~Blackfan~~-~~Schwachmann~~ 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 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.		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.

82.45.134.242: /* Explanation of Condition */

2013-08-21T11:26:21Z

Explanation of Condition

← Older revision		Revision as of 11:26, 21 August 2013
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	==Explanation of Condition==		==Explanation of Condition==
	Inherited disorders of blood production include such disorders as ~~[[Haemoglobin Disorder]]s, [[G6PD Deficiency]]~~ Diamond-Blackfan syndrome, Blackfan-Schwachmann syndrome and congenital dyserythropoietic anaemia, as well as the inherited immune deficiencies such as Wiscott-Aldrich Syndrome.		Inherited disorders of blood production include such disorders as Diamond-Blackfan syndrome, Blackfan-Schwachmann 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.		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.

Dr Robert Lown: /* Explanation of Condition */

2013-08-21T11:20:54Z

Explanation of Condition

← Older revision		Revision as of 11:20, 21 August 2013
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	Inherited disorders of blood production include such disorders as [[Haemoglobin Disorder]]s, [[G6PD Deficiency]] Diamond-Blackfan syndrome, Blackfan-Schwachmann syndrome and congenital dyserythropoietic anaemia, as well as the inherited immune deficiencies such as Wiscott-Aldrich Syndrome.		Inherited disorders of blood production include such disorders as [[Haemoglobin Disorder]]s, [[G6PD Deficiency]] Diamond-Blackfan syndrome, Blackfan-Schwachmann syndrome and congenital dyserythropoietic anaemia, as well as the inherited immune deficiencies such as Wiscott-Aldrich Syndrome.

	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 cause clinical symptoms.		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==		==Guidance==

Dr Robert Lown: /* Explanation of Condition */

2013-08-21T11:19:40Z

Explanation of Condition

← Older revision		Revision as of 11:19, 21 August 2013
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	==Explanation of Condition==		==Explanation of Condition==
	Inherited disorders of blood production include such disorders as [[Haemoglobin Disorder]]s, [[G6PD Deficiency]] Diamond-Blackfan syndrome, Blackfan-Schwachmann syndrome and congenital ~~diserythropoietic~~ anaemia, as well as the inherited immune deficiencies such as Wiscott-Aldrich Syndrome.		Inherited disorders of blood production include such disorders as [[Haemoglobin Disorder]]s, [[G6PD Deficiency]] Diamond-Blackfan syndrome, Blackfan-Schwachmann syndrome and congenital dyserythropoietic anaemia, as well as the inherited immune deficiencies such as Wiscott-Aldrich Syndrome.

	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 cause clinical symptoms.		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 cause clinical symptoms.

Dr Robert Lown: /* Date of Last Update */

2013-08-21T11:15:12Z

Date of Last Update

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	====Date of Last Update====		====Date of Last Update====
	~~15th June 2012~~		21st August 2013

Dr Robert Lown: /* =At recruitment */

2013-08-21T11:14:47Z

=At recruitment

← Older revision		Revision as of 11:14, 21 August 2013
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	Details of the inherited disease should be noted, as well as the underlying mutation, if known.		Details of the inherited disease should be noted, as well as the underlying mutation, if known.

	===At recruitment==		===At recruitment===

	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 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.
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	See also specific guidance for [[Diamond-Blackfan Syndrome, family history of]]		See also specific guidance for [[Diamond-Blackfan Syndrome, family history of]]


	==Version==		==Version==

Dr Robert Lown: PAge created and updated

2013-08-21T11:14:35Z

PAge created and updated

← Older revision		Revision as of 11:14, 21 August 2013
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	==Explanation of Condition==		==Explanation of Condition==
	Inherited disorders of blood production include such disorders as [[Haemoglobin Disorder]]s, [[G6PD Deficiency]] Diamond-Blackfan syndrome, Blackfan-Schwachmann syndrome and congenital diserythropoietic anaemia, ~~and~~ inherited immune deficiencies such as Wiscott-Aldrich Syndrome.		Inherited disorders of blood production include such disorders as [[Haemoglobin Disorder]]s, [[G6PD Deficiency]] Diamond-Blackfan syndrome, Blackfan-Schwachmann syndrome and congenital diserythropoietic anaemia, as well as the inherited immune deficiencies such as Wiscott-Aldrich Syndrome.

	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 cause clinical symptoms.		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 cause clinical symptoms.
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	Refer all cases to the medical officer.		Refer all cases to the medical officer.

	Details of the inherited disease should be noted, as well as the underlying mutation, if known. May join the register only if the potential donor has been tested for this mutation and found to not carry it. Alternatively, if alternative tests exist which make carriage of a particular mutation likelyIf necessary discuss the Specific guidance		Details of the inherited disease should be noted, as well as the underlying mutation, if known.

			===At recruitment==

	==~~Pseudonyms or Related Conditions~~==		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.

			===At CT/Work-up===

			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.


			See also specific guidance for [[Diamond-Blackfan Syndrome, family history of]]