Serum protein electrophoresis is used in clinical practice to identify patients with multiple myeloma and other serum protein disorders. It is an inexpensive and easy-to-perform screening procedure. Electrophoresis separates serum proteins based on their physical properties and identifies morphologic patterns in response to acute and chronic inflammation, various malignancies, liver or renal fa...

Patients with inherited bleeding disorders are rare in obstetric practice but present with prolonged bleeding even after minor invasive procedures. They require a combined approach with obstetric and hematological management of each case, including the neonatal management of a possibly affected fetus. We present the case of a pregnancy in a patient with combined Factor VII deficiency and Glanzm...

OBJECTIVE To determine the frequency and clinical features of bleeding disorders in the tribe as a result of consanguineous marriages. DESIGN Cross Sectional Study INTRODUCTION Countries in which consanguinity is a normal practice, these rare autosomal recessive disorders run in close families and tribes. Here we describe a family, living in village Ali Murad Chandio, District Badin, labele...

Hereditary factor XIII (FXIII) deficiency is a rare autosomal bleeding disorder which can cause life-threatening bleeding. Acquired be immune-mediated or due to increased consumption reduced synthesis. The most commonly used screening test insensitive, and widely quantitative assays have analytical limitations. present study sought validate Technofluor FXIII Activity, the first isopeptidase-bas...

Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group ...

Morbus Osler-Weber-Rendu syndrome also known as Hereditary hemorrhagic telangiectasia (HHT) and Meckel's diverticulum is a rare combination disorder. Our case presented with the recurrent obscure gastrointestinal (GI) bleeding for several years. He came with a massive active lower gastrointestinal bleeding. Ultimatively, he underwent an exploratory laparotomy along with intraoperative colonosco...

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a 12-year-old boy who has suffered from fever and bloody diarrhea since early childhood is described. All structural and underlying disorders leading to bleeding we...

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...