Term
| Describe the membrane defects and membrane skeletal abnormalities associated with hereditary spherocytosis. |
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Definition
| Doe to membrane protein defects there is a loss of the RBC’s membrane as the cell heals with less membrane it still tries to hold all of its guts so it become full round and inflexible also is more permeable to sodium |
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Term
| Describe the hematologic and chemical laboratory results associated with the hemolytic process in hereditary spherocytosis. |
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Definition
| Most are a symptomatic but some have saver anemia MCV normal to slightly decreased MCH normal MCHC high osmotic fragility shows sensitive |
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Term
| Describe the peripheral blood and bone marrow morphology that is characteristic of hereditary spherocytosis |
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Definition
| Increased cellular growth/activity |
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Term
| Explain the clinical findings, therapy, and prognosis of hereditary spherocytosis |
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Definition
| May have elevated indirect bilirubin do to premature breakdown of RBCs may have low iron as marrow tries to keep up if severe anemia accrues may have a splenectomy prognosis with treatment is good |
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Term
| Describe the osmotic fragility results in hereditary spherocytosis. |
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Definition
| Cells will lysis showing increase sensitivity |
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Term
| Describe the membrane defects and skeletal protein abnormalities associated with hereditary elliptocytosis and hereditary pyropoikilocytosis |
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Definition
| Defects in horizontal interactions between components of membrane the cell can not bend and regain its shape as it passes through capillaries its screeched and remands that way |
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Term
| List the laboratory results that are associated with hereditary elliptocytosis |
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Definition
| Elliptocytes in blood smear MCV may be low |
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Term
| Describe the peripheral blood morphology characteristic of hereditary pyropoikilocytosis. |
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Definition
| Funny shapes AKA pyropoikilocyts |
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Term
| Explain the genetic inheritance pattern and the pathophysiology of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency |
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Definition
| X-linked enzymopathy g6pd is used in NADP -> NADPH witch is an antioxidant needed to keep hemoglobin from becoming denature in the presents of oxidants |
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Term
| List the clinical and laboratory findings that would identify an individual with G-6-PD |
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Definition
| Heinz body in blood smear decreased G6PD + auto hemolysis test |
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Term
| List the causes of hemolytic episodes in G-6-PD deficiency. |
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Definition
| Drug that works as an oxidizing agent or fava beans |
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Term
| Define Heinz bodies and explain their relevance to G-6-PD deficiency |
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Definition
| They are denatured hemoglobin when oxidants meat hemoglobin they denature the hemoglobin |
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Term
| Name the most common enzyme deficiency in the glycolytic pathway. |
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Definition
| Pyruvate Kinase Deficiency |
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Term
| Restate the principle of the screening test for pyruvate kinase deficiency. |
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Definition
PEP + ADP +Mg^2 -PK ENZYME-> PYRUVATE + ATP/
PYRUVATE +NADH + H → LACTATE + NAD^+ NADH fluoresces in UV light |
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Term
| Define porphyrias and explain the basic mechanism for the hereditary diseases. |
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Definition
| Group of rare inherited or acquired disorders of certain enzymes that normally participate in the production of porphyrins and heme. |
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Term
| Explain the main defect in paroxysmal hemoglobinuria |
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Definition
| RBCs are sensitive to complement so when PH changes at night making complement more affective the RBC are lysed |
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Term
| Describe red blood cell morphology in thrombotic thrombocytopenic pupura. |
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Definition
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Term
| Name the most common cause of hemolytic anemia worldwide |
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Definition
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