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Table 1 Characteristics and laboratory test results of the patient

From: Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency

Individual

Age

Mutation type

PT (s)

APTT (s)

FXIII Ag (%)

Urea test

Clinical information

Proband

27

Homozygote

12.1

30.7

< 2.4↓

Clot lysis within 2 h

Bleeding diathesis

Mother

53

Heterozygote

11.9

35.0

64.5↓

Negative

Asymptomatic

Father

55

Heterozygote

11.9

34.4

60.9↓

Negative

Asymptomatic

  1. Reference ranges: PT, 10.0–16.9s; APTT, 20.0–43.5s; FXIIIAg (%), 75–
  2. 155%
  3. Abbreviations: APTT activated partial thromboplastin time; PT prothrombin time; FXIII Ag, antigen of coagulation factor XIII
  4. Note: ↓, reduced