@article{Baolai Hua_Liankai Fan_Yan Liang_Yongqiang Zhao_Edward G.D. Tuddenham_2009, place={Pavia, Italy}, title={α1-antitrypsin Pittsburgh in a family with bleeding tendency}, volume={94}, url={https://haematologica.org/article/view/5282}, DOI={10.3324/haematol.2008.004739}, abstractNote={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 α<sub>1</sub> 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 α<sub>1</sub>-antitrypsin Met 358 to Arg (α<sub>1</sub&gt;-antitrypsin Pittsburgh). Seven other members of this pedigree had normal coagulation tests and do not carry the same genetic mutation. This unique family with α1-antitrypsin Pittsburgh sheds some light on the study of this extremely rare mutation and its inheritance.}, number={6}, journal={Haematologica}, author={Baolai Hua and Liankai Fan and Yan Liang and Yongqiang Zhao and Edward G.D. Tuddenham}, year={2009}, month={May}, pages={881-884} }