Variant Comments & Reference:

The Type II mutation (Glu135*) is the most common mutation in Jewish FXI-deficient patients. Saunders et al 2005, Wiewel-Verschueren et al 2017, Tiscia et al 2017, Colakoglu et al 2018

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
17	67	M	Jewish	<3	<5	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	History of postoperative and posttraumatic bleeding requiring multiple transfusions of fresh frozen plasma.	Martincic et al 1998
51		M	Portuguese	1	7	Homozygote		Severe	Excessive bleeding after dental extraction. Required multiple transfusions of fresh frozen plasma.	Ventura et al 2000
52		M	Portuguese	1	14	Homozygote		Severe	Moderate Bleeding. Haematomas after dental extraction.	Ventura et al 2000
53		F	Portuguese	4		Homozygote		Severe	Non-bleeder.	Ventura et al 2000
67	22	F	Bedouin	0				Severe	Patient was admitted because of vaginal bleeding during the fourth month of her first pregnancy. There were no prior bleeding episodes. Bleeding stopped after fr esh frozen plasma transfusions.	Hatskelzon et al 1996
68	30	M	Jewish	<1	<10	Compound heterozygote	c.1714_1716+11del	Severe		Peretz et al 1996
76	36	M	Ashkenazi Jewish	<10	<10	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	Trivial - few mild but insignificant bleeding episodes.	Asakai et al 1989
77	50	F	Ashkenazi Jewish	<10	<10	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	None	Asakai et al 1989
78	44	M	Ashkenazi Jewish	<10	<10	Compound heterozygote	c.1716+1G>A	Severe	Mild - few episodes of mild but significant bleeding	Asakai et al 1989
80	48	F	Ashkenazi Jewish	<10	<10	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	Moderate - recurrent episodes of moderately severe bleeding, sometimes requiring a blood transfusion.	Asakai et al 1989
81	64	F	Ashkenazi Jewish	<10	<10	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	Moderate - recurrent episodes of moderately severe bleeding, sometimes requiring a blood transfusion.	Asakai et al 1989
92		F	Portuguese	1		Homozygote		Severe	Non-bleeder.	Ventura et al 2000
93		M	Portuguese	2		Homozygote		Severe	Non-bleeder.	Ventura et al 2000
94		F	Portuguese	47	88	Heterozygote		Mild		Ventura et al 2000
103	10	M		<1			c.764G>A (p.Cys255Tyr)	Severe	No bleeding after testicular surgery following plasma treatment	Zivelin et al 2002
105	48	F	Bedouin	42				Mild		Hatskelzon et al 1996
106	11	M	Bedouin	30				Mild		Hatskelzon et al 1996
107	9	M	Bedouin	1				Severe		Hatskelzon et al 1996
108	13	F	Bedouin	59				Mild		Hatskelzon et al 1996
109	16	F	Bedouin	22				Mild		Hatskelzon et al 1996
110	18	F	Bedouin	43				Mild		Hatskelzon et al 1996
148			Jewish	2		Compound heterozygote	c.1334A>G (p.Tyr445Cys)	Not Reported		Zivelin et al 1999 (Abstract)
158	56	F	Italian	<1	0			Mild	Patient had normal menses and no bleeding tendency until the age of 24 years when a bleeding episode occured after a dental extraction. This did not require any transfusions. At the age of 52 she underwent right knee arthroscopy under prophylactic treatment with fresh-frozen-virus inactivated plasma. Recently prohylactic treatment was not given for a further minor orthopedic procedure and no bleeding complications occurred.	Zadra et al 2004
159	61	M	Italian	<1	0			Severe	Frequently suffered severe epistaxis, resolved by fresh frozen plasma infusion. Excessive bleeding occurred after dental extractions as a consequence of surgery.	Zadra et al 2004
160	29	M	Italian	<1	1			Severe	Patient has a thalassemia trait. He has not shown any bleeding symptoms. Recently he successfully underwent varicecele repair under treatment with fresh-frozen v irus-inactivated plasma.	Zadra et al 2004
163	32	M	Italian	<1	5	Compound heterozygote		Severe	Ecchymoses, hematomas and post-traumatic bleeding tendency.	Zadra et al 2004
183	12	M	Italian	35	33	Heterozygote		Not Reported	Recurrent epistaxis	Solda et al 2005
184	34	M	Italian	32	39	Heterozygote		Not Reported	Recurrent epistaxis	Solda et al 2005
189	41	F	Jewish	18		Heterozygote		Not Reported	Bleeding after delivery.	Quelin et al 2006
235			UK Population	<1	<3	Compound heterozygote	c.751C>T (p.Gln251*)	Severe		Mitchell et al 2006
272			French Basque			Compound heterozygote		Not Reported		Zivelin et al 1999 (Abstract 2)
279	2	F	Non-Ashkenazi Jewish	<1	<1	Compound heterozygote		Severe	Gingival bleeding	Zucker et al 2007
335			Non-Jewish			Compound heterozygote		Not Reported		Castaman et al 2007 (ISTH Abstract)
336			Czech	1	3	Compound heterozygote	c.290G>C (p.Gly97Ala)	Not Reported		Castaman et al 2008
351	18	F	Jewish	0.02		Compound heterozygote		Severe	Gastroenteritis with intestinal bleeding	Neerman-Arbez M et al 2007
383		F		<1		Compound heterozygote		Severe	transfusion for bleeding complications and post-operative bruising following ovariectomy	Quelin et al 2009
384		F		<1		Compound heterozygote		Severe	Post-operative bleeding following choecystectomy requiring no therapeutic intervention. Ovarian bruising following delivery. Patient sufferes from spontaneous bruising and gingivorrhagia.	Quelin et al 2009
388		M		<1	<1	Compound heterozygote		Severe	Post traumatic bleeding following surgery for a maxillary fracture. Bleeding also occurred under fresh frozen plasma (FFP) prophylactic infusion for surgical material removal. Two other uncomplicated surgical procedures were performed in this patient under prophylactic FFP cover.	Quelin et al 2009
398	32	M	Italian	<1	5	Compound heterozygote		Severe	Ecchymoses, hematomas and post-traumatic bleeding tendency.	Zadra et al 2004
400				0.02		Compound heterozygote	c.15T>A (p.Tyr5*)	Severe		Neerman-Arbez et al 2007
418	32	M	Italian	<1	5	Compound heterozygote	c.644_649delTCGACA (p.Ile215_Asp216del)	Severe	Ecchymoses, hematomas and post-traumatic bleeding tendency.	Zadra et al 2004
419		F	French	<1		Compound heterozygote	c.688T>A (p.Cys230Ser)	Severe	Transfusion for bleeding complications and post-operative bruising following ovariectomy	Quelin et al 2009
420		F		<1		Compound heterozygote	c.688T>A (p.Cys230Ser)	Severe	Patient sufferes from spontaneous bruising and gingivorrhagia.Post-operative bleeding following cholecystectomy requiring no therapeutic intervention. Ovarian bruising following obstetric delivery.	Quelin et al 2009
441				<1	<1	Homozygote		Severe		Saunders et al 2009
442				<1	4	Homozygote		Severe		Saunders et al 2009
443				<1		Homozygote		Severe		Saunders et al 2009
444				6		Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported		Saunders et al 2009
445				44		heterozygote		Not Reported		Saunders et al 2009
446				62		Heterozygote		Not Reported		Saunders et al 2009
447					3	Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported		Saunders et al 2009
457	61	M	Italian	<0.5	4	Compound heterozygote	c.981C>A (p.Cys327*)	Severe		Castaman et al 2008
461		M		<1	<1	Compound heterozygote	c.1102G>A (p.Gly368Arg)	Severe	Post traumatic bleeding following surgery for a maxillary fracture. Bleeding also occurred under fresh frozen plasma (FFP) prophylactic infusion for surgical material removal. Two other uncomplicated surgical procedures were performed in this patient under prophylactic FFP cover.	Quelin et al 2009
466	24	M	Iranian	16		Homozygote		Not Reported	Bleeding after circumcision requiring FFP for Rx and prophylaxis. No parent consanguinity. FXI activity of parents: mother 41%, father 47%.	Karimi et al 2009
483	44	F	Ashkenazi Jewish	<1	<1	Compound heterozygote	c.1334A>G (p.Tyr445Cys)	Severe	Menorrhagia	Zucker et al 2007
526	6	M	Turkish			Heterozygote		Not Reported	Epistaxis	Colakoglu et al 2018
527	60	M	Turkish			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
531	30	F	Italian	38		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
532	80	M	Italian	42		Heterozygote		Not Reported	Superficial vein thrombosis	Tiscia et al 2017
533	40	F	Italian	34		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
534	58	F	Italian	<1		Compound heterozygote	Unspecified (C136R) (p.Cys136Arg)	Not Reported	Asymptomatic	Tiscia et al 2017
634	54	M	Indian	<1		Homozygote		Not Reported	Bleeding during laryngectomy	Kawankar et al 2016

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.