Commonly used drugs in hematologic disorders.

The drugs used to treat hematologic disorders constitute an extraordinary array of agents and include therapy for anemias, bleeding diatheses, thromboembolism and hematologic malignancies. Within many of these categories, hematologic therapies represent molecular understanding of the disease pathophysiology and a treatment targeted precisely at the known aberration. In this chapter we discuss these treatments, with greater emphasis on the most commonly used agents and the latest advances in the specific field.

Anemias excluding cobalamin and folate deficiencies.

Anemias are one of the commonest maladies affecting humans. They result from either a failure of production by the bone marrow (hypoproliferative), or from premature destruction or loss (hyperproliferative) of red cells. Hypoproliferative anemias typically result from deficiencies of essential nutrients, stem cell abnormalities or deficiency, and infiltrative processes of the bone marrow.

NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

Purpose: Sotos syndrome is a genetic disorder characterized primarily by overgrowth, developmental delay, and a characteristic facial gestalt. Defects in the NSD1 gene are present in approximately 80% of patients with Sotos syndrome. The goal of this study was to determine the incidence of NSD1 abnormalities in patients referred to a clinical laboratory for testing and to identify clinical criteria that distinguish between patients with and without NSD1 abnormalities.