98 Questions
What is the typical inheritance pattern of Steininger's Autosomal dominant?
Autosomal dominant
What is the name of the anomaly characterized by defects in nuclear segmentation resulting in fewer lobes or nuclear segments?
Pelger Huet Anomaly
What is the characteristic chromatin pattern seen in Pelger Huet Anomaly?
Coarse chromatin clumping pattern
What is the typical association of acquired hypersegmentation?
Megaloblastic anemia
What is the name of the disorder characterized by more than five lobes or nuclear segments in segmented neutrophils?
Hypersegmentation
What is the genetic defect associated with Pelger Huet Anomaly?
Mutation in the lamin β-receptor gene
What is the consequence of homozygous Pelger Huet Anomaly?
Cognitive impairment, heart defects, and skeletal abnormalities
What is the typical functions of neutrophils in Pelger Huet Anomaly?
Normal function
What is the main cause of ribosomal protein precipitation?
Metabolic toxicity within cells
What is the significance of the number of affected neutrophils?
It correlates with C-Reactive Protein levels
What is the composition of Döhle bodies?
Aggregates of rough endoplasmic reticulum
What is the significance of grading the extent of toxic granulation?
It determines the coarseness and amount of granulation
What is the characteristic appearance of Döhle bodies?
Pale blue, round inclusions
What is the significance of delayed preparation of smears?
It makes Döhle bodies less visible
What is the significance of Döhle bodies in diagnosis?
They are nonspecific and can be seen in various conditions
What is the relationship between toxic granulation and Döhle bodies?
They can be seen together, but are not mutually exclusive
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?
Serious physical and cognitive problems and shortened survival
What is the location of the gene responsible for Gaucher's disease?
1q21-q22
What is the function of b-glucosidase (glucocerebrosidase) in Gaucher's disease?
To metabolize glycolipid
What is the purpose of enzyme replacement therapy with recombinant glucocerebrosidase in Gaucher's disease?
To replace deficient enzyme
What is characteristic of Gaucher cells?
Abundant fibrillar blue-gray cytoplasm with a striated or wrinkled appearance
Which stain is positive in Gaucher cells?
Sudan Black B
What organs are primarily affected in Gaucher's disease?
Brain, lungs, and spleen
What is the name of the enzyme deficient in Niemann-Pick disease?
Sphingomyelinase
In Job's syndrome, which of the following is impaired?
Directional motility
What is the genetic mutation involved in Job's syndrome?
Mutation in the STAT3 gene
What is the characteristic feature of Chronic Granulomatous Disease?
Defect in microbicidal function
What is the clinical triad of Autosomal Dominant Hyperimmunoglobulin E Syndrome?
Atopic dermatitis, recurrent skin staphylococcal infections, and recurrent pulmonary infections
What is the effect of the mutation in the STAT3 gene in Job's syndrome?
Impaired differentiation of T helper cells into Th1 cells
What is the characteristic laboratory finding in Job's syndrome?
High serum IgE levels
What is the name of the syndrome characterized by faulty granulocyte function and elevated IgE levels?
Hyper-IgE syndrome
Which of the following is NOT a feature of Job's syndrome?
Neutropenia
What is the primary mechanism by which chronic intravascular hemolytic processes contribute to iron deficiency anemia?
Loss of iron in hemoglobin passed into the urine
What is the effect of decreased stomach acidity on iron absorption?
It decreases iron absorption by reducing the conversion of ferric iron to ferrous iron
What is the primary function of hepcidin in iron homeostasis?
It inhibits iron absorption by decreasing the production of ferroportin
What is the characteristic of stage 2 iron deficiency?
Hemoglobin content of reticulocytes begins to decrease
What is the effect of iron deficiency on iron-dependent tissues?
It begins to affect the tissues, such as muscles
What is the significance of soluble transferrin receptor (sTfR) levels in iron deficiency?
It increases as the body tries to capture available iron
What is the characteristic of stage 3 iron deficiency?
Frank anemia is evident
What is the primary mechanism by which matriptase-2 protein leads to iron deficiency?
It leads to the production of hepcidin, which inactivates ferroportin
Which group of individuals is at especially high risk of developing iron deficiency?
Menstruating women
What is the primary cause of iron deficiency in soldiers and long-distance runners?
Exercise-induced hemoglobinuria
What is a common laboratory finding in early stages of iron deficiency?
Elevated RDW
What is the primary role of transferrin in iron deficiency diagnosis?
To detect low iron levels in the blood
What is the characteristic change observed in red blood cells in iron deficiency anemia?
Anisocytosis and microcytosis
What is the primary significance of MCV, MCH, and MCHC in iron deficiency diagnosis?
They are decreased in iron deficiency
What is the role of biochemical iron studies in iron deficiency diagnosis?
They are the primary diagnostic tools
What is the characteristic shape change observed in red blood cells in iron deficiency anemia?
Target cells and elliptocytes
What is the primary purpose of lab testing in hemochromatosis?
To screen for the condition and diagnose the cause of organ damage
Which of the following can promote iron absorption in normal individuals?
Ascorbic acid and alcohol
What is the significance of elevated transferrin saturation or serum ferritin in hemochromatosis?
It is a screening test for hereditary hemochromatosis
What is the purpose of liver biopsy in hemochromatosis?
To assess the degree of organ damage
What is the role of genetic testing in hemochromatosis?
To provide confirmation of the diagnosis
What is the significance of serum ferritin in hemochromatosis?
It is a monitoring test for iron overload
What is the significance of albumin levels in hemochromatosis?
It is a helpful indicator of liver synthetic function
What is the significance of Hgb concentration and Hct in hemochromatosis?
They are inexpensive tests that can also be used to monitor treatment
What is the primary reason for the ineffectiveness of Vit.E and C in iron overload?
Their mechanisms are overwhelmed by the excess iron
How long does it take for hemoglobin levels to return to normal after initiation of adequate treatment?
2 months
What is the typical age range when Classic Hereditary Hemochromatosis becomes severe?
40-60 years
Why do affected women have a lower frequency of clinical disease expression?
Blood loss associated with menstruation and childbirth prevents excess iron
What is the significance of a biphasic population in the peripheral blood film and indices?
It reflects the microcytic RBC population and younger normocytic cells
What is the name given to the condition characterized by hemosiderin deposition in the skin, cirrhosis-induced jaundice, and diabetes?
Bronzed diabetes
Why is it essential to continue iron therapy for an additional 3-4 months?
To replenish the storage pool and prevent relapse
What is the consequence of excessive iron accumulation in the heart muscle?
Congestive heart failure
What is the likely cause of iron deficiency in most instances?
Dietary deficiency
What should be considered if the patient fails to respond to iron treatment?
Continued occult blood loss or inadequate absorption
Why are patients with Hemochromatosis more prone to hepatocellular carcinoma?
Due to the mutation of the p53 tumor suppressor gene
How much iron do patients with Classic Hereditary Hemochromatosis typically harbor by the time their disease becomes severe?
20-30g
What is the significance of normocytic cells in the peripheral blood film and indices?
They eventually predominate over the microcytic RBC population
What is the effect of the amount of iron available in the diet on the development of the disease?
It hastens the development of the disease
What should be investigated if the patient has been adherent to the therapeutic regimen?
Continued occult blood loss or inadequate absorption
What is the significance of hereditary causes of iron deficiency?
They are rarely diagnosed
What is the primary underlying cause of Primary Hemolytic Anemias?
Hemolysis
What type of hemolytic anemia is characterized by abnormalities of RBC membranes, enzymatic pathways or HGB molecule?
Inherited Hemolytic Anemia
What is the consequence of anemia of chronic inflammation?
Iron Deficiency Anemia
What is the classification of Paroxysmal Nocturnal Hemoglobinuria?
Intrinsic Hemolytic Anemia
What is the characteristic of Acquired Hemolytic Anemia?
Previously hematologically normal but acquired an agent or condition that causes lysis of RBCs
What is the consequence of chronic hemolytic anemia?
Bone Marrow Compensation
What is the clinical feature that develops with chronic macrophage-mediated hemolytic processes?
Bone deformities
What is the name given to jaundice caused by hemolysis?
Prehepatic jaundice
What is the laboratory test used to detect hemosiderin in the urine sediment?
Prussian blue stain
What is the characteristic feature of the urine in acute fragmentation hemolysis?
Brown color
What is the potential complication of hemolysis?
Acute renal failure
What is the clinical feature of anemia in hemolytic anemia?
Tachycardia and pallor
What is the primary function of platelets in the circulation?
Surveillance of blood vessel continuity
What is the term for the stoppage of blood flow?
Hemostasis
What is the role of platelets in primary hemostasis?
Forming a primary hemostatic plug
What are the three components of hemostasis?
Extravascular, vascular, and tissue repair
What is the response of the coagulation process in hemostasis?
Production of a stable clot due to coagulation factors
What is the function of platelets in secondary hemostasis?
Providing a surface for coagulation factors
What is the primary function of the vascular component in hemostasis?
Surveillance of blood vessel continuity
What is the ultimate outcome of the hemostatic process?
Production of a stable clot due to coagulation factors
What is the primary function of Thrombopoietin in platelet formation?
Maintenance of megakaryocyte mass
What is the characteristic feature of reticulated platelets?
They carry free ribosomes and fragments of the Rough Endoplasmic Reticulum
What is the typical lifespan of a platelet?
2-10 days
What is the characteristic shape of a platelet?
Discoid
What is the function of the canalicular system in platelets?
It gives the platelet a sponge-like appearance
What is the primary component of the platelet membrane?
Phospholipids
This quiz covers the concept of hypersegmentation of neutrophils, its causes, and associated deficiencies. It also explores the connection with vitamin B12 and folic acid deficiencies.
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