Table 1.
Phenotypic details of the 6 IC with identified large VWF deletions
| IC | VWF:RCo, IU/dL | VWF:Ag, IU/dL | RCo/Ag | VWFpp, IU/dL | pp/Ag | VWF:CB, IU/dL | FVIII:C, IU/dL | VWF:FVIIIB | ABO blood group | BS* | Multimers† | Variant | Exons deleted |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1F5III1 | 28 | 28 | 1.00 | 40 | 1.43 | 29 | 70 | 1.12 | O/A | 4 | Normal | c.221-977_532+7059del (p.Asp75_Gly178del) | 4-5 |
| P6F1II1‡ | 23 | 32 | 0.72 | 131 | 4.09 | 15 | 25 | 0.61 | O/O | 4 | 2A(sm) | c.5621-478_5842+2440delins(18)§ (p.Phe1875_Cys1948del) | 33-34 |
| P6F10II1 | 28 | 29 | 0.97 | 58 | 2.00 | 44 | 65 | 1.06 | O/A | 14 | Normal | c.221-977_532+7059del (p.Asp75_Gly178del) | 4-5 |
| P9F3I2 | 11 | 12 | 0.92 | 57 | 4.75 | 12 | 17 | 0.99 | O/A | 6 | 2A(IIE) | c.5455+279_5842+998delins(7)§ (p.Arg1819_Cys1948delinsSer) | 32-34 |
| P9F11II1|| | 20 | 31 | 0.65 | 47 | 1.52 | 31 | 5 | 0.95 | O/O | 10 | Normal | c.56-335_220+1585del (p.Thr20_Gly74del) | 3 |
| P12F9III1 | 27 | 21 | 1.29 | 41 | 1.95 | 30 | 58 | 1.12 | O/O | 8 | Normal | c.221-977_532+7059del (p.Asp75_Gly178del) | 4-5 |
| Normal range¶ | 75-117 | 76-121 | 0.85-1.17 | 104-136 | 1.00-1.50 | 103-150 | 88-133 | 0.68-1.44 | — | — | — | — | — |
—, not applicable; pp/Ag, VWFpp/VWF:Ag ratio; RCo/Ag, VWF:RCo/VWF:Ag ratio.
*
A score ≥4 is indicative of excessive bleeding.23
†
Based on detailed analysis (P6F1II1 reclassified as VWD2A).25
‡
IC were also heterozygous for c.2561G>A (p.Arg854Gln) in trans.
§
A detailed description of deletion is provided in supplemental Figure 4.
|
|IC were also heterozygous for c.8164C>G (p.Pro2722Ala) in cis.