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21 Cards in this Set
- Front
- Back
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what is the hemoglobin variant responsible for sickle cell disease
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HbS
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abnormal hemoglobin aggregates in RBC's forming...
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Heinz body
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hemoglobinopathies that has high affinity for oxygen are called
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familial erythrocytosis
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in familial erythrocytosis where affinity for oxygen is high, and tissue delivery is low, the kidneys, due to the pressence of low oxygen levels will produce what to increase RBCs
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erythropoietin
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hemoglabinopathies that have low affinity for oxygen are called
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familial cyanosis
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if an individual presents with a lavender blue appearance, and their blood is choclate brown, it is likely that they have...
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HbM (methemoglobinemia)
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the severity of the alpha thalassemia is related to...
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number of alpha genes deleted
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in alpha thalassemia the loss of one alpha gene produces...
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silent carrier state
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in alpha thalassemia the loss of two genes produces...
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alpha thalassemia
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alpha thalassemia is often characterized by mild...
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hypochromic and microcytic anemia
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the loss of three alpha globin genes produces what disease
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HbH
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what problem is associated with HbH
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high oxygen affinity
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the loss of all four alpha globin genes produces a lethal condition known as...
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hydrops fetalis (alpha-knot thalassemia)
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due to the lack of alpha globin genes in the fetus, what type of hemoglobin is present
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Hb Barts (gamma 4)
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what type of problem is associated with beta thalassemias
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transcription mutations (in TATA and CACACCC sequences) and RNA processing mutations
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in the thalassemias, what type of RNA mutations can occur
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cap site mutations and polyadenylation mutations
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what are the current methods of treatment for thalassemias
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transfusion, bone marrow tranplantation, chelation therapy to reduce iron
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experimentaly what drugs can be used to enhance HbF synthesis in people with betal thalassemia
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azacytidine (inhibits DNA methylation-toxic), hydroxyurea
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experiementally, what other techniques may be used to treat thalassemias
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gene therapy
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what part of the hemoglobin is commonly affected in M hemoglobins and methemoglobinemia
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proximal or distal histidines
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how is oxygen binding affinity affected in methemoglobinemia
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normal to slightly decreased
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