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Hemoglobin Disorders

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Question
Answer
What is Thalassemia? List three consequences from Thalassemia.   DIsorders resulting in underproduction of hemoglobin chains. 3 consequences: 1) Microcytic anemia, 2) Hypochromia, 3) ineffective erythropoiesis  
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Two types of Thalassemia   1 - Alpha Thalassemia 2 - Beta Thalassemia  
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Three categories of Beta Thalassemia and its presentation.   1 - Beta Thalassemia trait -> Increased HbA2 chain (A2 = alpha and delta chains) 2 - Beta Thalassemia intermedia -> Mixture of HbA2 and HbF 3 - Beta Thalassemia major = Cooley's Anemia -> main Hb is HbF (Fetal Hemoglobin)  
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Signs and Symptoms of Beta Thalassemia   1) Splenomegaly 2) Severe Anemia 3) Bone deformity 4) Organ problems (CHF)  
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What do you look for in blood smear that indicates Thalassemia   1) Target cells 2) Microcytic Anemia 3) Hypochromia  
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How many genes regulate alpha chains?   4  
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Types of Alpha Thalassemia   1) Silent Carrier - missing 1 - normal to mild 2) Trait - missing 2 - mild anemia 3) Hb H - missing 3 - moderate anemia with Hb H (hemoglobin with 4 beta chains) 4) Hydrops Fetalis - missing 4 -Lethal in uterine -> Stillbirth  
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What happens to fetus with Hydrops Fetalis?   Missing all alpha chain genes -> Gets Hb Bart's = 4 gamma chain hemoglobin -> Poor transport = tissue hypoxia -> Multiple organ failure -> Massive edema + hypoxic death  
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What two diseases fall under Sickle Cell Anemia?   Homozygous Sickle Cell Anemia (SS) + Sickle Beta Thalassemia (Bo)  
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When does Sickle Cell Hemoglobins depolymerize?   During de-oxygenated state  
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Factors that hemoglobin polymer depend on:   1) Transit time through microcirculation 2) MCHC - dehydration can increase depolymerization 3) Amount of HbF in the cell - more HbF leads to less depolymerized Hbs  
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What does Howell Jolly Bodies indicate?   Howell Jolly Bodies are fragments of nucleus that is incompletely removed due to defect of the spleen.  
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List the treatments for Sickle Cell Disease   Hydration and Pain Control, Folate, Penicillin, Hydroxyurea - increases HbF,  
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What is the name of the drug used for pain prevention in SCD?   Crizanlizumab (Criz)  
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