FXIII deficiency due to base exchange Thr 449 (ACT) --> Ile (ATT) in exon 11 of the factor 13A gene. A cause of bleeding?

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%.

[Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene].

A 14 year old boy was referred to us for a detailed coagulation study because a previously performed aPTT has been found prolonged. The boy had no history of bleeding symptoms and also the family history was negative for bleeding or thrombotic events. The aPTT in the patient was 96 s (reference range: 24-36 s), prothrombin time and thrombin time were both normal.

A case report of successful treatment with immunoadsorption onto protein A in mixed connective tissue disease in childhood.

An 11-year-old male patient suffering mixed connective tissue disease with life-threatening pulmonary arterial hypertension, progressive heart failure (New York Heart Association class III-IV), skin ulcers, Raynaud's phenomenon and arthritis, showing no improvement after intensive immunosuppressive therapy or high dose steroids, was treated with immunoadsorption onto protein A. With a combined therapy of low-dose cortisone and bosentan and 22 sessions of immunoadsorption, his condition improved significantly and he continues in clinical remission. At the time of writing no further immunosuppressive therapy or immunoadsorption had been necessary.

Neonatal alloimmune thrombocytopenia caused by human leucocyte antigen-B27 antibody.

Neonatal alloimmune thrombocytopenia (NAIT) occurs when maternal alloantibodies to antigens presented on foetal platelets cause their immune destruction. Whether human leucocyte antigen (HLA) antibodies can cause NAIT is controversial. Here, a patient was described who suffered from a NAIT caused by an HLA-B27 antibody.

Molecular biology and clinical manifestation of hereditary factor VII deficiency.

Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder. Mutations and polymorphisms of the FVII gene were characterized in more than 40 unrelated patients with FVII deficiency. Among the 29 different mutations, the most frequent were Ala294 Val, Ala294Val;404delC, IVS7+7, and Val281 Phe.