Factor XIII (FXIII) deficiency is a rare (autosomal recessive) genetic disorder which is associated with delayed bleeding symptoms that occur hour or days after trauma. Spontaneous rupture of visceral organs due to FXIII deficiency is a rare cause of abdominal pain with grave consequences and can be easily confused with other abdominal pathologies because of normal standard coagulation profile ...

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In th...

PLASMA CLOTTING FACTOR is deficient in most of the “experiments of nature” that have helped to further our understanding of the mechanism of blood coagulation and hemostasis, but in thrombasthenia the defect lies in the platelets which are unable to promote clot retraction. Thrombasthenic patients usually have a mild to moderately severe hemorrhagic diathesis, with a prolonged bleeding time. Th...

Partial nodular transformation of the liver is a rare condition. Only six cases have been reported previously, all of which presented with bleeding from oesophageal varices. A further example of the disorder is recorded differing in the mode of onset with ascites. The total duration of the illness was eight weeks. Necropsy showed widespread evidence of liver cell damage with nodule formation ar...

Stuart Prower factor (Factor X) deficiency is a rare hereditary autosomal recessive coagulation disorder. We have come across three cases in the course of last 20 years at our institute. These patients presented with prolonged bleeding after minor trauma, epistaxis, subcutaneous bluish black nodules and two of them presented with history of consanguinity in parents. Hematological findings in co...

Haemophilia is a rare and congenital bleeding disorder caused by a genetic defect, resulting in a lack of or insufficient coagulation factors VIII or IX in the body. In affected individuals, this causes an inability to clot blood, leading to bleeds in the joints, muscles and soft tissues. If left untreated, this can lead to disability and sometimes death. It is widely agreed that the optimal st...

......................................... Received: 03-02-14 Accepted: 05-11-14 Abstract Ectopic varices (EV) in the jejunum are a rare vascular disorder which is associated with portal hypertension (5%). It is even rarer when it occurs without associated portal hypertension. We report a case of a patient without portal hypertension who had had chronic intestinal bleeding from varices located i...

Blue rubber bleb nevus syndrome (BRBNS) is a congenital disorder with characteristic venous anomalies that can present with varying degree of blood loss. The most clinically significant symptoms in adults include gastrointestinal (GI) bleeding and iron deficiency anemia. Severe complications can include intestinal torsion, intussusception, and even perforation, with each leading to significant ...

Kasabach-Merritt Syndrome (KMS) is a rare disorder that can affect infants from the time of birth or later in infancy. Diagnosis of KMS is made based on the constellation of hemangioma, thrombocytopenia, and coagulopathy. Our case presented at birth with hemangioma on perineal area and bleeding tendancy. On evaluation thrombocytopenia and coaguloepathy were found and diagnosis KMS was establish...

Although rare, gastrointestinal posttransplant lymphoproliferative disorder (PTLD) can lead to abdominal pain or gastrointestinal bleeding in patients with a history of solid-organ transplantation. We describe a case of isolated gastrointestinal PTLD in a patient who presented with acute on chronic iron deficiency anemia 26 years after heart transplant. A comprehensive endoscopic evaluation wit...