Intrachromosomal recombinations involving F8A, in intron 22 of the factor VIII gene, and one of two homologous regions 500 kb 5' of the factor VIII gene result in large inversions of DNA at the tip of the X chromosome. The gene is disrupted, causing severe hemophilia A. Two inversions are possible, distal and proximal, depending on which homologous region is involved in the recombination event....

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Intracranial hemorrhage in hemophilia is an unusual manifestation of the disease. The cases hitherto reported have been those of subarachnoid rather than of intracerebral hemorrhage. Indeed, Gunther,2 writing in 1935, stated that no substantiated instance of cerebral hemorrhage in a hemophiliac had been detailed up to that date. Von Limbeck,5 however, is credited with the description of such a ...

Hemophilia A is a worldwide disorder of coagulation system. It is a male disorder, yet females with hemophilia are rarely seen in communities with high rate of consanguineous marriages. The abnormalities in factor VIII gene transfer as an X-linked pattern in the family, affects as many as one-third of patients who had no family history of abnormality and thus the occurrence of a sporadic mutati...

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial...

Hemophilia A is a hereditary coagulation disorder. Most cases are diagnosed at birth or at least during childhood. A spontaneous spinal epidural hematoma was developed in a 74-year-old male patient who hadn't had a family or past medical history of bleeding disorders. On magnetic resonance imaging, epidural hematoma at L1-2 was accompanied by spinal stenosis at L4-5 and spondylolytic spondyloli...

The present study reports on the treatment of bleeding episodes and the natural history of factor VIII inhibitors in 4 patients with acquired haemophilia A postpartum. Low titre type II factor VIII inhibitors in 3 patients and high titre type I inhibitor in 1 patient became apparent immediately to 7 months after delivery. High dose human factor VIII concentrate substitution was effective in con...