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Hemoglobin Disorders

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
Two types of Thalassemia 1 - Alpha Thalassemia 2 - Beta Thalassemia
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)
Signs and Symptoms of Beta Thalassemia 1) Splenomegaly 2) Severe Anemia 3) Bone deformity 4) Organ problems (CHF)
What do you look for in blood smear that indicates Thalassemia 1) Target cells 2) Microcytic Anemia 3) Hypochromia
How many genes regulate alpha chains? 4
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
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
What two diseases fall under Sickle Cell Anemia? Homozygous Sickle Cell Anemia (SS) + Sickle Beta Thalassemia (Bo)
When does Sickle Cell Hemoglobins depolymerize? During de-oxygenated state
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
What does Howell Jolly Bodies indicate? Howell Jolly Bodies are fragments of nucleus that is incompletely removed due to defect of the spleen.
List the treatments for Sickle Cell Disease Hydration and Pain Control, Folate, Penicillin, Hydroxyurea - increases HbF,
What is the name of the drug used for pain prevention in SCD? Crizanlizumab (Criz)
Created by: soobyung92