FXIII deficiency due to base exchange Thr 449 (ACT) > Ile (ATT) in exon 11 of the factor 13A gene
| Autor: | L. Kochhan, P. Heuchel, J. Jenderny, B. Maak |
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| Rok vydání: | 2010 |
| Předmět: | |
| Zdroj: | Hämostaseologie. 30:162-164 |
| ISSN: | 2567-5761 0720-9355 |
| Popis: | SummaryA 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).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 α2 gene. The patient inherited the base exchange in the factor 13A gene from his mother. Homozygosity of the 807 C allele in the integrin α2 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.In our opinion the light factor XIII deficiency in our patient is coincidental and not the sole cause of bleeding. |
| Databáze: | OpenAIRE |
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