Novel missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia.

We report herein a child with transfusion-dependent chronic anemia, the cause of which was difficult to establish because of his transfusion dependency. The clinical and laboratory features suggested a chronic nonspherocytic hemolytic anemia (CNSHA) with bone marrow features suggestive of congenital dyserythropoietic anemia (CDA). DNA studies, however, revealed the underlying condition to be due to a novel mutation in the gene responsible for pyruvate kinase deficiency (PKD).

Prominent hemophagocytosis in cerebrospinal fluid in a patient with pneumococcal meningitis.

Hemophagocytosis is usually observed in bone marrow. But it can be an incidental finding in other body fluids in severe infections like cerebrospinal fluid in case of meningitis. Clinicians need to rule out primary type of hemophagocytic syndrome.

Effects of nilotinib on platelet function in patients with chronic myeloid leukemia in chronic phase.

Background: Tyrosine kinases are highly expressed in platelets and play an important role in their activation process. Some studies have reported the blocking effects of tyrosine kinase inhibitors on different platelet functions.

Objectives: Evaluate the effects of nilotinib on platelets aggregation in 42 patients with chronic phase of CML and correlate the results with clinical and hematological parameters: age, complete blood count and presentation.

Coagulopathic side effect of L-asparaginase on fibrinogen level in childhood acute lymphoblastic leukemia during induction phase.

Background: L-asparaginase is chemotherapeutic agent commonly used in treatment of Acute Lymphoblastic Leukemia. Thromboembolic and to a lesser extent bleeding events are serious complications associated with administration of this drug during the induction phase in ALL especially in children resulting from reduced synthesis of proteins such as Antithrombin & fibrinogen.

Objective: Evaluation of the coagulopathic side effect of L-asparaginase during the induction phase in treatment of ALL in children by measuring fibrinogen levels before & after administration of this drug.