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DOI: 10.1055/s-0031-1295635
© Thieme Medical Publishers
Diagnosis and Management of von Willebrand Disease in a Single Institution of Argentina
Publication History
Publication Date:
21 December 2011 (online)
The publisher regrets an error in data in Table 3 in the above article in Seminars in Thrombosis & Hemostasis, Volume 37, Number 5, 2011, p. 572 . The correct table is given below.
Table 3 Phenotypic and Genotypic Profiles in Our VWD Patients with Candidate Mutations Patients BT (min) Platelet Count (109/L) FVIII (IU/dL) VWF:Ag (IU/dL ) VWF:RCo (IU/dL) Multimeric Pattern Mutation VWD Type A-1 mother 9 282 35 44 ND Absence of intermediate and HMWM C1272F Heterozygous 2A A-2 proband >9 534 30 32 ND Absence of intermediate and HMWM C1272F Heterozygous 2A B 8 216 45 56 36 Absence of HMWM R1306W Heterozygous 2B C >9 150 56 47 <10 Absence of HMWM R1308C Heterozygous 2B D >10 150 45 52 19 Absence of HMWM V1316M Heterozygous 2B E NT 175 40 46 20 Absence of HMWM V1316M Heterozygous 2B F 6.5 840 35 10 <10 Normal R1315C Heterozygous 2M G >9 456 25 15 ND Normal R1315C Heterozygous 2M H-1 proband 4.5 458 28 20 <10 Normal R1315C Heterozygous 2M H-2 cousin 7.5 754 30 21 <10 Normal R1315C Heterozygous 2M I-1 4.5 304 130 112 <10 Normal G1324S Heterozygous 2M J-1 proband >9 653 40 49 ND Normal I1628T M740I Double heterozygous 1 + 2M J-2 mother NT 450 90 80 61 Normal M740I Heterozygous 1 J-3 father >10 435 45 31 ND Normal I1628T Heterozygous 2M J-4 sister 5.5 747 47 53 ND Normal I1628T Heterozygous 2M K 4.5 304 130 112 <10 Normal G1324S Heterozygous 2M L-1 proband 8 450 20 15 ND Normal C1374 Homozygous 2M L-2 sister 5.5 282 70 34 <10 Normal C1374 Homozygous 2M L-3 son 6.3 210 30 28 <10 Normal R1374C Heterozygous 2M M-1 proband 9 317 115 92 ND Normal E1549K Heterozygous 2M M-2 sister NT 344 100 93 22 Normal E1549K Heterozygous 2M M-3 grandmother >15 450 45 85 <10 Normal E1549K Heterozygous 2M M-4 cousin 5 524 45 61 <10 Normal E1549K Heterozygous 2M M-5 aunt 8.5 258 90 91 <10 Normal E1549K Heterozygous 2M M-6 uncle 6 283 50 45 ND Normal E1549K Heterozygous 2M N-1 proband 4 566 31 13 <10 50% of ultralarge multimers R1205H R924Q Double heterozygous Vicenza + 2N N-2 mother 3.5 430 40 75 66 Normal R924Q Heterozygous 2N O-1 proband 3.3 420 7 82 90 NA R854Q Heterozygous 2N O-2 aunt NT 530 33 45 42 NA R854Q Heterozygous 2N P-1 proband NT 439 70 (pregnant) 95 82 NA R854Q Heterozygous 2N P-2 grandmother ..................................Not available for laboratory assays.................................. R854Q Heterozygous 2N P-3 son ..................................Not available for laboratory assays.................................. R854Q Heterozygous 2N P-4 brother ..................................Not available for laboratory assays.................................. R854Q Heterozygous 2N P-5 brother ..................................Not available for laboratory assays.................................. R854Q Heterozygous 2N Q NT 661 47 96 110 NA R854Q Heterozygous 2N R-1 proband 8 450 20 103 93 NA R924Q Heterozygous 2N R-2 son 6 507 50 97 74 NA R924Q Heterozygous 2N S NT 395 50 110 87 NA R924Q Heterozygous 2N BT, bleeding time; FVIII, factor VIII; VWF:Ag, von Willebrand factor antigen; VWF:RCo, VWF ristocetin cofactor; ND, nondetectable; NA, not applicable; NT, not tested.
Adriana Inés WoodsM.S.
Instituto de Investigaciones Hematológicas “Mariano R Castex,” Academia Nacional de Medicina de Buenos Aires
Pacheco de Melo 3081, Ciudad Autónoma de Buenos Aires, (C1425AUM), Argentina
Email: aiwoods@hematologia.anm.edu.ar