Lecture 05 - Anemia III

Lecture 05 - Anemia III - Lecture 05 Anemia (Hemolytic)...

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Lecture 05 – Anemia (Hemolytic) Congenital vs Aquired Hemolytic Anemias - Congential – three main categories o Membrane defects : inherited defect of structure membrane o Enzymatic defects: not generating enough energy o Hemoglobin defects: mutation of the hgb molecule / defects in the synthesis of the molecule *patient and family history critical for diagnosis and genetic counseling for congenital hemolytic - Acquired o Immunohemolytic o Infections (e.g. malaria) o External agents such as venoms, chemicals, burns, drugs o Traumatic and microangiopathic o Other, rare, causes: hypophosphatemia, PNH, spur cell anemia
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Disorder Characteristics Specifics Slides Membrane Disorders: *Hereditary Spherocytosis *Hereditary Elliptocytosis Autosomal Dominant (many mutation in the many proteins mutation result in different phenotypes) Heterogeneous mutations and severity Extravascular hemolysis Splenectomy often curative Suffer (variably) from anemia, jaundice, splenomegaly, pigmented gallstones Hereditary Spherocytosis Common Partial deficiencies of the membrane proteins spectrin , ankyrin or band 3 (deficit in one of the three proteins) Structural defects cause release of lipids (loss of membrane) Low surface to volume ratio results in spherical shape (as you loss membrane the cell rounds up and become spherocytic Osmotic Fragility Test - You got a tightly packed sphere more fluid in the sphere the cell will fall apart and it will not be able to expand - The test expose patient and control cells to various hypotonicity (%NaCl) - As you drop the NaCl concentration the normal cell start to lyse the sphereocyte will lyse at higher salt concenration than normal cells - This will tell you that spherocytes will be there - The cross over tail at the top due to Retic (the are more resistant to osmotic lysis since they havnt been through the membranes several times) These cells look spheres (not longer biconcave) looks very dense Hereditary Elliptocytosis Most common with Mediterranean or African ancestry. 1 in 4000 world-wide, Mostly autosomal dominant Alpha or beta spectrin
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gene defects Elliptical shape results from deformation in microcirculation and failure to revert to normal biconcave disk Homozygous form results in severe pyropoikilocytosis (marked hemolytic anemia) Heterozygous form is mild These cells will fall apart as you raise the temperature Disorder Characteristics Specifics Slides Enzymatic defects: *G6PD Deficiency *Pyruvate Kinase *Many others… Very common: 1 per 1000 in Europeans. More common in
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This note was uploaded on 09/14/2011 for the course PHARM HEM taught by Professor Staff during the Spring '11 term at UCSD.

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Lecture 05 - Anemia III - Lecture 05 Anemia (Hemolytic)...

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