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Questions and Answers
What is the typical inheritance pattern of Steininger's Autosomal dominant?
What is the typical inheritance pattern of Steininger's Autosomal dominant?
- X-linked
- Mitochondrial
- Recessive
- Autosomal dominant (correct)
What is the name of the anomaly characterized by defects in nuclear segmentation resulting in fewer lobes or nuclear segments?
What is the name of the anomaly characterized by defects in nuclear segmentation resulting in fewer lobes or nuclear segments?
- Pelger Huet Anomaly (correct)
- Steininger's Autosomal dominant
- Hypersegmentation
- Megaloblastic Anemia
What is the characteristic chromatin pattern seen in Pelger Huet Anomaly?
What is the characteristic chromatin pattern seen in Pelger Huet Anomaly?
- Dispersed chromatin pattern
- Coarse chromatin clumping pattern (correct)
- Condensed chromatin pattern
- Fine lacy pattern
What is the typical association of acquired hypersegmentation?
What is the typical association of acquired hypersegmentation?
What is the name of the disorder characterized by more than five lobes or nuclear segments in segmented neutrophils?
What is the name of the disorder characterized by more than five lobes or nuclear segments in segmented neutrophils?
What is the genetic defect associated with Pelger Huet Anomaly?
What is the genetic defect associated with Pelger Huet Anomaly?
What is the consequence of homozygous Pelger Huet Anomaly?
What is the consequence of homozygous Pelger Huet Anomaly?
What is the typical functions of neutrophils in Pelger Huet Anomaly?
What is the typical functions of neutrophils in Pelger Huet Anomaly?
What is the main cause of ribosomal protein precipitation?
What is the main cause of ribosomal protein precipitation?
What is the significance of the number of affected neutrophils?
What is the significance of the number of affected neutrophils?
What is the composition of Döhle bodies?
What is the composition of Döhle bodies?
What is the significance of grading the extent of toxic granulation?
What is the significance of grading the extent of toxic granulation?
What is the characteristic appearance of Döhle bodies?
What is the characteristic appearance of Döhle bodies?
What is the significance of delayed preparation of smears?
What is the significance of delayed preparation of smears?
What is the significance of Döhle bodies in diagnosis?
What is the significance of Döhle bodies in diagnosis?
What is the relationship between toxic granulation and Döhle bodies?
What is the relationship between toxic granulation and Döhle bodies?
What is the primary effect of deficient activity of an enzyme necessary for the degradation of dermatan sulfate, heparan sulfate, keratan sulfate, and/or chondroitin sulfate?
What is the primary effect of deficient activity of an enzyme necessary for the degradation of dermatan sulfate, heparan sulfate, keratan sulfate, and/or chondroitin sulfate?
What is the location of the gene responsible for Gaucher's disease?
What is the location of the gene responsible for Gaucher's disease?
What is the function of b-glucosidase (glucocerebrosidase) in Gaucher's disease?
What is the function of b-glucosidase (glucocerebrosidase) in Gaucher's disease?
What is the purpose of enzyme replacement therapy with recombinant glucocerebrosidase in Gaucher's disease?
What is the purpose of enzyme replacement therapy with recombinant glucocerebrosidase in Gaucher's disease?
What is characteristic of Gaucher cells?
What is characteristic of Gaucher cells?
Which stain is positive in Gaucher cells?
Which stain is positive in Gaucher cells?
What organs are primarily affected in Gaucher's disease?
What organs are primarily affected in Gaucher's disease?
What is the name of the enzyme deficient in Niemann-Pick disease?
What is the name of the enzyme deficient in Niemann-Pick disease?
In Job's syndrome, which of the following is impaired?
In Job's syndrome, which of the following is impaired?
What is the genetic mutation involved in Job's syndrome?
What is the genetic mutation involved in Job's syndrome?
What is the characteristic feature of Chronic Granulomatous Disease?
What is the characteristic feature of Chronic Granulomatous Disease?
What is the clinical triad of Autosomal Dominant Hyperimmunoglobulin E Syndrome?
What is the clinical triad of Autosomal Dominant Hyperimmunoglobulin E Syndrome?
What is the effect of the mutation in the STAT3 gene in Job's syndrome?
What is the effect of the mutation in the STAT3 gene in Job's syndrome?
What is the characteristic laboratory finding in Job's syndrome?
What is the characteristic laboratory finding in Job's syndrome?
What is the name of the syndrome characterized by faulty granulocyte function and elevated IgE levels?
What is the name of the syndrome characterized by faulty granulocyte function and elevated IgE levels?
Which of the following is NOT a feature of Job's syndrome?
Which of the following is NOT a feature of Job's syndrome?
What is the primary mechanism by which chronic intravascular hemolytic processes contribute to iron deficiency anemia?
What is the primary mechanism by which chronic intravascular hemolytic processes contribute to iron deficiency anemia?
What is the effect of decreased stomach acidity on iron absorption?
What is the effect of decreased stomach acidity on iron absorption?
What is the primary function of hepcidin in iron homeostasis?
What is the primary function of hepcidin in iron homeostasis?
What is the characteristic of stage 2 iron deficiency?
What is the characteristic of stage 2 iron deficiency?
What is the effect of iron deficiency on iron-dependent tissues?
What is the effect of iron deficiency on iron-dependent tissues?
What is the significance of soluble transferrin receptor (sTfR) levels in iron deficiency?
What is the significance of soluble transferrin receptor (sTfR) levels in iron deficiency?
What is the characteristic of stage 3 iron deficiency?
What is the characteristic of stage 3 iron deficiency?
What is the primary mechanism by which matriptase-2 protein leads to iron deficiency?
What is the primary mechanism by which matriptase-2 protein leads to iron deficiency?
Which group of individuals is at especially high risk of developing iron deficiency?
Which group of individuals is at especially high risk of developing iron deficiency?
What is the primary cause of iron deficiency in soldiers and long-distance runners?
What is the primary cause of iron deficiency in soldiers and long-distance runners?
What is a common laboratory finding in early stages of iron deficiency?
What is a common laboratory finding in early stages of iron deficiency?
What is the primary role of transferrin in iron deficiency diagnosis?
What is the primary role of transferrin in iron deficiency diagnosis?
What is the characteristic change observed in red blood cells in iron deficiency anemia?
What is the characteristic change observed in red blood cells in iron deficiency anemia?
What is the primary significance of MCV, MCH, and MCHC in iron deficiency diagnosis?
What is the primary significance of MCV, MCH, and MCHC in iron deficiency diagnosis?
What is the role of biochemical iron studies in iron deficiency diagnosis?
What is the role of biochemical iron studies in iron deficiency diagnosis?
What is the characteristic shape change observed in red blood cells in iron deficiency anemia?
What is the characteristic shape change observed in red blood cells in iron deficiency anemia?
What is the primary purpose of lab testing in hemochromatosis?
What is the primary purpose of lab testing in hemochromatosis?
Which of the following can promote iron absorption in normal individuals?
Which of the following can promote iron absorption in normal individuals?
What is the significance of elevated transferrin saturation or serum ferritin in hemochromatosis?
What is the significance of elevated transferrin saturation or serum ferritin in hemochromatosis?
What is the purpose of liver biopsy in hemochromatosis?
What is the purpose of liver biopsy in hemochromatosis?
What is the role of genetic testing in hemochromatosis?
What is the role of genetic testing in hemochromatosis?
What is the significance of serum ferritin in hemochromatosis?
What is the significance of serum ferritin in hemochromatosis?
What is the significance of albumin levels in hemochromatosis?
What is the significance of albumin levels in hemochromatosis?
What is the significance of Hgb concentration and Hct in hemochromatosis?
What is the significance of Hgb concentration and Hct in hemochromatosis?
What is the primary reason for the ineffectiveness of Vit.E and C in iron overload?
What is the primary reason for the ineffectiveness of Vit.E and C in iron overload?
How long does it take for hemoglobin levels to return to normal after initiation of adequate treatment?
How long does it take for hemoglobin levels to return to normal after initiation of adequate treatment?
What is the typical age range when Classic Hereditary Hemochromatosis becomes severe?
What is the typical age range when Classic Hereditary Hemochromatosis becomes severe?
Why do affected women have a lower frequency of clinical disease expression?
Why do affected women have a lower frequency of clinical disease expression?
What is the significance of a biphasic population in the peripheral blood film and indices?
What is the significance of a biphasic population in the peripheral blood film and indices?
What is the name given to the condition characterized by hemosiderin deposition in the skin, cirrhosis-induced jaundice, and diabetes?
What is the name given to the condition characterized by hemosiderin deposition in the skin, cirrhosis-induced jaundice, and diabetes?
Why is it essential to continue iron therapy for an additional 3-4 months?
Why is it essential to continue iron therapy for an additional 3-4 months?
What is the consequence of excessive iron accumulation in the heart muscle?
What is the consequence of excessive iron accumulation in the heart muscle?
What is the likely cause of iron deficiency in most instances?
What is the likely cause of iron deficiency in most instances?
What should be considered if the patient fails to respond to iron treatment?
What should be considered if the patient fails to respond to iron treatment?
Why are patients with Hemochromatosis more prone to hepatocellular carcinoma?
Why are patients with Hemochromatosis more prone to hepatocellular carcinoma?
How much iron do patients with Classic Hereditary Hemochromatosis typically harbor by the time their disease becomes severe?
How much iron do patients with Classic Hereditary Hemochromatosis typically harbor by the time their disease becomes severe?
What is the significance of normocytic cells in the peripheral blood film and indices?
What is the significance of normocytic cells in the peripheral blood film and indices?
What is the effect of the amount of iron available in the diet on the development of the disease?
What is the effect of the amount of iron available in the diet on the development of the disease?
What should be investigated if the patient has been adherent to the therapeutic regimen?
What should be investigated if the patient has been adherent to the therapeutic regimen?
What is the significance of hereditary causes of iron deficiency?
What is the significance of hereditary causes of iron deficiency?
What is the primary underlying cause of Primary Hemolytic Anemias?
What is the primary underlying cause of Primary Hemolytic Anemias?
What type of hemolytic anemia is characterized by abnormalities of RBC membranes, enzymatic pathways or HGB molecule?
What type of hemolytic anemia is characterized by abnormalities of RBC membranes, enzymatic pathways or HGB molecule?
What is the consequence of anemia of chronic inflammation?
What is the consequence of anemia of chronic inflammation?
What is the classification of Paroxysmal Nocturnal Hemoglobinuria?
What is the classification of Paroxysmal Nocturnal Hemoglobinuria?
What is the characteristic of Acquired Hemolytic Anemia?
What is the characteristic of Acquired Hemolytic Anemia?
What is the consequence of chronic hemolytic anemia?
What is the consequence of chronic hemolytic anemia?
What is the clinical feature that develops with chronic macrophage-mediated hemolytic processes?
What is the clinical feature that develops with chronic macrophage-mediated hemolytic processes?
What is the name given to jaundice caused by hemolysis?
What is the name given to jaundice caused by hemolysis?
What is the laboratory test used to detect hemosiderin in the urine sediment?
What is the laboratory test used to detect hemosiderin in the urine sediment?
What is the characteristic feature of the urine in acute fragmentation hemolysis?
What is the characteristic feature of the urine in acute fragmentation hemolysis?
What is the potential complication of hemolysis?
What is the potential complication of hemolysis?
What is the clinical feature of anemia in hemolytic anemia?
What is the clinical feature of anemia in hemolytic anemia?
What is the primary function of platelets in the circulation?
What is the primary function of platelets in the circulation?
What is the term for the stoppage of blood flow?
What is the term for the stoppage of blood flow?
What is the role of platelets in primary hemostasis?
What is the role of platelets in primary hemostasis?
What are the three components of hemostasis?
What are the three components of hemostasis?
What is the response of the coagulation process in hemostasis?
What is the response of the coagulation process in hemostasis?
What is the function of platelets in secondary hemostasis?
What is the function of platelets in secondary hemostasis?
What is the primary function of the vascular component in hemostasis?
What is the primary function of the vascular component in hemostasis?
What is the ultimate outcome of the hemostatic process?
What is the ultimate outcome of the hemostatic process?
What is the primary function of Thrombopoietin in platelet formation?
What is the primary function of Thrombopoietin in platelet formation?
What is the characteristic feature of reticulated platelets?
What is the characteristic feature of reticulated platelets?
What is the typical lifespan of a platelet?
What is the typical lifespan of a platelet?
What is the characteristic shape of a platelet?
What is the characteristic shape of a platelet?
What is the function of the canalicular system in platelets?
What is the function of the canalicular system in platelets?
What is the primary component of the platelet membrane?
What is the primary component of the platelet membrane?
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