4th Palermo Conference on INNOVATIVE THERAPIES FOR LYMPHOID MALIGNANCIES
Haematologica, Vol 94, Issue 6, 881-884 doi:10.3324/haematol.2008.004739
Copyright © 2009 by Ferrata Storti Foundation
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Brief Reports

{alpha}1-antitrypsin Pittsburgh in a family with bleeding tendency

Baolai Hua1, Liankai Fan1, Yan Liang2, Yongqiang Zhao1, Edward G.D. Tuddenham3

1 Department of Hematology, Peking Union Medical College Hospital (PUMCH), Peking Union Medical College (PUMC) & Chinese Academy of Medical Science (CAMS), Beijing, China
2 Basic Medical Research Center, Capital Medical University Affiliated Beijing Chaoyang Hospital, Beijing, China
3 Katharine Dormandy Haemophilia Centre & Thrombosis Unit, Royal Free Hospital, London, UK

Correspondence: Yongqiang Zhao, Shuaifuyuan 1# Dongcheng District, Beijing, 100730 China. E-mail:yongqiangzhao{at}hotmail.com

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 {alpha}1-antitrypsin Pittsburgh sheds some light on the study of this extremely rare mutation and its inheritance.

Key words: {alpha}1-antitrypsin Pittsburgh, bleeding, inheritance, mutation.


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J. Emmerich
{alpha}1-antitrypsin and the maintenance of hemostatic balance
Haematologica, June 1, 2009; 94(6): 762 - 763.
[Full Text] [PDF]