Hemoglobin Disorders
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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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