Abstract | UNLABELLED: A 17-year old man was sent to us for coagulation testing because he suffered from acute bleeding which started immediately after making an incision in the skin for a urological surgery. The patient had a history of mild bleeding symptoms ( nose bleeds during the childhood, gingival bleeds). Results of laboratory investigations: Blood group 0, closure times (PFA 100):132 s ( ADP/ collagen) and 300 s ( epinephrine/ collagen), VWF antigen 57%, VWF activity 50%, factor VIII activity 66%, factor XIII activity 59%. The results were confirmed by further investigations. Additionally, two relevant genetic findings were obtained: first a heterozygous base exchange in exon 11 of the factor 13A gene -Thr 449 (ACT)>Ile (ATT)-, not described before the completion of the study, and second the homozygous state of the 807 C-allele within the integrin alpha2 gene. The patient inherited the base exchange in the factor 13A gene from his mother. Homozygosity of the 807 C allele in the integrin alpha2 gene is associated with a very low expression of the platelet collagen receptor. Individuals with low VWF due to blood group 0 and low platelet collagen receptor density often exhibit a bleeding tendency, e.g. bleedings from mucosal membranes or menorrhagia in females. CONCLUSION:
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Authors | B Maak, L Kochhan, P Heuchel, J Jenderny |
Journal | Hamostaseologie
(Hamostaseologie)
Vol. 30
Issue 3
Pg. 162-4
(Aug 2010)
ISSN: 0720-9355 [Print] Germany |
PMID | 20680227
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- ABO Blood-Group System
- Factor XIII
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Topics |
- ABO Blood-Group System
(genetics)
- Adolescent
- Amino Acid Substitution
- Exons
(genetics)
- Factor XIII
(genetics)
- Factor XIII Deficiency
(blood, genetics)
- Female
- Hemorrhage
(blood, genetics)
- Humans
- Male
- Nuclear Family
- Polymorphism, Single Nucleotide
(genetics)
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