Late onset thrombosis in two Japanese patients with compound heterozygote protein S deficiency

Highlights • This case report described two patients with compound heterozygote PS deficiency. • In two cases, we identified Ala139Val and c.2135delA mutation in PROS1 gene. • Both proband developed late-onset thrombosis. • Ala139Val mutation might have a mild phenotype. • Qualitative deficiency (Al...

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Bibliographic Details
Published in:Thrombosis research 2015-06, Vol.135 (6), p.1221-1223
Main Authors: Taniguchi, Fumina, Morishita, Eriko, Sekiya, Akiko, Yamaguchi, Daisuke, Nomoto, Haruka, Kobayashi, Erina, Takata, Mao, Kosugi, Ikuko, Takeuchi, Nobuyasu, Asakura, Hidesaku, Ohtake, Shigeki
Format: Article
Language:English
Subjects:
Adolescent
Age of Onset
Blood Proteins - genetics
Family Health
Female
Hematology, Oncology and Palliative Medicine
Heterozygote
Homozygote
Humans
Japan
Male
Mutation
Pedigree
Phenotype
Protein S Deficiency - blood
Protein S Deficiency - genetics
Thrombosis - blood
Thrombosis - immunology
Tomography, X-Ray Computed
Venous Thrombosis - blood
Venous Thrombosis - diagnostic imaging
Whole Body Imaging
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Summary:Highlights • This case report described two patients with compound heterozygote PS deficiency. • In two cases, we identified Ala139Val and c.2135delA mutation in PROS1 gene. • Both proband developed late-onset thrombosis. • Ala139Val mutation might have a mild phenotype. • Qualitative deficiency (Ala139Val) may cause development of late-onset thrombosis.
ISSN:0049-3848
1879-2472
DOI:10.1016/j.thromres.2015.03.023