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Table 2 Genetic analysis of three patients with likely constitutive ADAMTS-13 deficiency

From: Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease

Patient ADAMTS-13 gene mutation ADAMTS-13 gene polymorphism Protein (status) ADAMTS-13 activity N >50 %
Exon/Intron number Mutation (Status) Protein Protein Non acute phase (basal)
A Exon 24 c.3178C > T p.Arg1060Trp pArg7Trp (Htz) 5 %
(Htz) heterozygous pGln448Glu (Htz)
   pPro618Ala (Htz)
pAla732Val (Htz)
pAla1033Thr (Htz)
B - - - pArg7Trp (Hm) 5-9 %
pGln448Glu (Hm)
pPro618Ala (Hm)
pAla732Val (Hm)
C Exon 6 c.559G > C (Htz) pAsp187His - <5 %
Intron 8 c.988-2A > C (Htz) not described
  1. Deleterious polymorphism are in italic [22]
  2. Abbreviations: homozygous, Hm; heterozygous, Htz.