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Case Reports
. 2009 Jun;94(6):881-4.
doi: 10.3324/haematol.2008.004739.

Alpha1-antitrypsin Pittsburgh in a family with bleeding tendency

Baolai Hua  1 , Liankai Fan, Yan Liang, Yongqiang Zhao, Edward G D Tuddenham
Affiliations
Case Reports

Alpha1-antitrypsin Pittsburgh in a family with bleeding tendency

Baolai Hua et al. Haematologica. 2009 Jun.

Abstract

We describe a 16-year-old girl and her 41-year-old father who both had a bleeding tendency, dramatic prolongation of all standard clotting assays, undetectable levels of plasma protein C activity, and low or borderline levels of factors X, XI and XII. Plasma and serum electrophoresis revealed a minor peak following the main alpha(1) globulin peak, of which the proportion was increased. Platelet aggregation by thrombin (final concentration 1 U/mL) was absent in both patients, but this inhibition can be overcome by increasing the concentration of thrombin (4 U/mL). The molecular defect responsible for these coagulation abnormalities was identified by genomic sequencing. Both patients are heterozygous for alpha(1)-antitrypsin Met 358 to Arg (alpha(1)-antitrypsin Pittsburgh). Seven other members of this pedigree had normal coagulation tests and do not carry the same genetic mutation. This unique family with alpha1-antitrypsin Pittsburgh sheds some light on the study of this extremely rare mutation and its inheritance.

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Figures

Figure 1.
Figure 1.
Pedigree of the family with α-1-antitrypsin Pittsburgh. White square and circle, healthy male and female; half darkened square and circle, affected male and female. Arrow: proband.
See this image and copyright information in PMC

Comment in

References

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