Category: Hematology
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Glucose-6-phosphate dehydrogenase deficiency
Overview/definition Lancet. 2008 Jan 5;371(9606):64-74. Diseases of erythrocytes can be divided into the affected component of the cell as follows: Hemoglobin (e.g. sickle cell anemia, thalassemia) Membrane-cytoskeleton (e.g. hereditary spherocytosis); and Metabolism (e.g. G6PD deficiency) G6PD deficiency is a common, X-linked reduction in the activity of glucose-6-phosphate dehydrogenase (G6PD), which makes erythrocytes susceptible to oxidative stress […]
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Sickle cell disease (SCD)
Overview of sickle cell disease, a form of hemoglobinopathy.
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Thalassemia
Thalassemia results when mutations affecting the genes involved in Hb biosynthesis lead to decreased Hb production. The clinical phenotype results from both the diminished amount of the particular globin chain as well as from the resultant chain imbalance that occurs because of normal production of the other globin chain.
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Venous thromboembolism (VTE)
Deep vein thrombosis (DVT) and pulmonary embolism (PE) are manifestations of the same pathological entity, called venous thromboembolism (VTE).