Factor X deficiency is a rare hereditary coagulation disorder. We report a case of congenital factor X deficiency diagnosed preoperatively in an 8-yr-old female child scheduled to undergo corrective surgery for congenital thoracolumbar kyphoscoliosis. Her preoperative coagulation profile revealed prolonged prothrombin time and activated partial thromboplastin time values. Further evaluation sho...

background: the most common polymorphisms identified in the methylenetetrahydrofolate reductase (mthfr) gene, c677t and a1298c lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. there are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like glanzmann's t...

The May-Hegglin Anomaly (MHA) is a rare autosomal dominant giant platelet disorder characterized by abnormally large platelets with defective leucocytes and thrombocytopenia varying degrees of bleeding manifestation. Here we report successful pregnancy outcome in primigravida MHA. (Preterm Pre-labour Rupture Membranes) PPROM mother, abnormalities the extremities due to ABS discussed.

Acquired haemophilia A (AHA) is a rare but often severe bleeding disorder caused by autoantibodies against coagulation factor VIII (FVIII). AHA occurs more frequently in the elderly and in association with several conditions, such as the post-partum period, malignancies, autoimmune diseases or drug exposure; however, approximately 50% of reported cases are apparently idiopathic. Beside the elim...

Factor XI (FXI) deficiency is a rare coagulation disorder associated with bleeding of variable severity but without a clear relationship between bleeding and FXI levels. This study reports the molecular genetic analysis of FXI deficiencies in thirteen patients. Six novel missense mutations were identified: P23L, P69T, C92G, E243D, W497C and E547K.

Blue rubber bleb nevus syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations. The most common clinical presentation symptomatic anemia due to GI bleeding, both overt and occult. present study reports 15-year-old female with iron-deficiency refractory therapy. She underwent various unsuccessful investigations find the origin of anemia.

Haemophilia A is a bleeding disorder that has a spectrum of manifestations ranging from persistent bleeding after minor trauma to spontaneous haemorrhage. As an X-linked disease, it has a rare occurrence in females. We report a case of a pregnant patient with severe haemophilia A, who received epidural analgesia during labour. The prepartum, intrapartum and postpartum care of a patient with suc...

Introduction: Acquired factor VIII (FVIII) inhibitors, also known as acquired hemophilia A, are rare with an annual incidence of 1-4 per million people [1,2]. Although the majority of cases of acquired FVIII inhibitors are idiopathic, this disorder is associated with underlying malignancies, autoimmune disease, pregnancy, infections, and medications. Bleeding complications are reported in over ...

Glanzmann thrombasthenia is a rare bleeding disorder that can present life-threatening bleeding. Our patients develop antiplatelet antibodies that become refractory to any pharmacological treatment. Allogeneic hematopoietic stem-cell transplantation is the only currently curative procedure, but has major risks mainly in adult; indeed, our patient died.

Type 2N Von Willebrand's disease (2N VWD) is a rare, recessively inherited bleeding disorder, comprising 1-2% of all VWD patients, usually manifesting as a mild bleeding diathesis. Treatment includes desmopressin (DDAVP) or intermediate purity plasma-derived FVIII concentrates containing residual VWF. We present a case of a 75-year-old gentleman, incidentally diagnosed with type 2N VWD in 2002 ...