Category blood health

Related articles: Hypovolemia Definition Hypovolemia is a reduction in the volume of circulating blood. A frequent cause is represented by blood loss (external or internal bleeding), generally due to trauma, surgery or injury to the wall of internal organs. Hypovolemia can also result from excessive fluid loss due to: dermal (excessive sweating, thermal or chemical burn) gastrointestinal (diseases that cause vomiting and diarrhea) renal (diabetes mellitus or insipid, adrenal insufficiency, chronic renal failure and abuse of diuretics)

Definition Macrocytosis is a condition in which red blood cells are larger than normal. Macrocytes in the blood can be found in some forms of anemia (sideroblastic, pernicious, aplastic and megaloblastic). Macrocytosis is frequent in the presence of deficiency or defective use of vitamin B12 or folate; this manifestation can be associated with malnutrition, alcoholism, pregnancy (due to increased needs), tropical sprue and gastrointestinal diseases, such as celiac disease and Crohn's disease

Definition Von Willebrand's disease is a hereditary disease, due to a quantitative, structural or functional abnormality of one of the factors involved in the initial phase of the coagulation process (Willebrand factor, VWF). In particular, von Willebrand's disease is secondary to a gene mutation on chromosome 12

Related articles: Myelofibrosis Definition Myelofibrosis is a chronic disease that affects the bone marrow. This condition belongs to the group of chronic myeloproliferative syndromes (which also includes polycythemia vera and essential thrombocythemia), which derive from the neoplastic transformation of hematopoietic stem progenitors, which in turn leads to an excessive proliferation of mature blood cells

Definition Cooley's disease is a form of hereditary thalassemia, caused by a reduced or absent synthesis of beta-globin hemoglobin chains. The result is a picture of post-natal onset anemia, early destruction of red blood cells (hemolysis) and ineffective erythropoiesis of varying severity. This haematological disorder is due to very heterogeneous alterations (point or compound mutations, deletions, etc

Definition Pancytopenia is a pathological condition in which the numerical reduction of all the cells present in the blood (erythrocytes, white blood cells and platelets) occurs. In other words, the simultaneous association of anemia, leukopenia and thrombocytopenia is created. The thrombocytopenia is the expression of an insufficiency of the marrow function, which can be established in the course of various diseases of the hematopoietic bone marrow

Related articles: Polycythemia vera Definition Polycythemia vera is a chronic myeloproliferative syndrome characterized by an increase in the red cell mass. At the base of the disease there is a clonal expansion of transformed hematopoietic stem cells. In fact, in the polycythemia vera, there is a population of normal stem cells and another that shows mutations that can cause the disease

Definition Porphyrias are a group of metabolic diseases, characterized by a deficiency of one of the enzymes involved in EME biosynthesis. The EME group (or haematin) is part of the hemoglobin, myoglobin and cytochromes molecules, and is able to bind oxygen and other compounds. In the presence of porphyria there is the accumulation of EME precursors, with toxic effects

Definition Late porphyria is a metabolic disease due to a defect in one of the enzymes involved in the biosynthesis of the haem. This condition involves characteristic changes in the skin, limited to the regions exposed to the sun (photodermatosis), and liver problems. Late cutaneous porphyria is caused, in particular, by mutations of the uroporphyrinogen decarboxylase (UPGD) gene

Definition Hereditary spherocytosis is a form of chronic hemolytic anemia. This disorder is secondary to alterations of erythrocyte cell membrane proteins, such as spectrin, which induce premature hemolysis. The result is a reduction of the erythrocyte membrane surface, which results in the formation of spherocytes (smaller, spherical and less deformable red blood cells) and in the decreased osmotic resistance of red blood cells when passing through the splenic microcirculation