Hypersegmentation of Neutrophils

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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?

Pelger Huet Anomaly (correct)

Steininger's Autosomal dominant

Hypersegmentation

Megaloblastic Anemia

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?

Megaloblastic anemia Signup and view all the answers

What is the name of the disorder characterized by more than five lobes or nuclear segments in segmented neutrophils?

Hypersegmentation Signup and view all the answers

What is the genetic defect associated with Pelger Huet Anomaly?

Mutation in the lamin β-receptor gene Signup and view all the answers

What is the consequence of homozygous Pelger Huet Anomaly?

Cognitive impairment, heart defects, and skeletal abnormalities Signup and view all the answers

What is the typical functions of neutrophils in Pelger Huet Anomaly?

Normal function Signup and view all the answers

What is the main cause of ribosomal protein precipitation?

Metabolic toxicity within cells Signup and view all the answers

What is the significance of the number of affected neutrophils?

It correlates with C-Reactive Protein levels Signup and view all the answers

What is the composition of Döhle bodies?

Aggregates of rough endoplasmic reticulum Signup and view all the answers

What is the significance of grading the extent of toxic granulation?

It determines the coarseness and amount of granulation Signup and view all the answers

What is the characteristic appearance of Döhle bodies?

Pale blue, round inclusions Signup and view all the answers

What is the significance of delayed preparation of smears?

It makes Döhle bodies less visible Signup and view all the answers

What is the significance of Döhle bodies in diagnosis?

They are nonspecific and can be seen in various conditions Signup and view all the answers

What is the relationship between toxic granulation and Döhle bodies?

They can be seen together, but are not mutually exclusive Signup and view all the answers

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 Signup and view all the answers

What is the location of the gene responsible for Gaucher's disease?

1q21-q22 Signup and view all the answers

What is the function of b-glucosidase (glucocerebrosidase) in Gaucher's disease?

To metabolize glycolipid Signup and view all the answers

What is the purpose of enzyme replacement therapy with recombinant glucocerebrosidase in Gaucher's disease?

To replace deficient enzyme Signup and view all the answers

What is characteristic of Gaucher cells?

Abundant fibrillar blue-gray cytoplasm with a striated or wrinkled appearance Signup and view all the answers

Which stain is positive in Gaucher cells?

Sudan Black B Signup and view all the answers

What organs are primarily affected in Gaucher's disease?

Brain, lungs, and spleen Signup and view all the answers

What is the name of the enzyme deficient in Niemann-Pick disease?

Sphingomyelinase Signup and view all the answers

In Job's syndrome, which of the following is impaired?

Directional motility Signup and view all the answers

What is the genetic mutation involved in Job's syndrome?

Mutation in the STAT3 gene Signup and view all the answers

What is the characteristic feature of Chronic Granulomatous Disease?

Defect in microbicidal function Signup and view all the answers

What is the clinical triad of Autosomal Dominant Hyperimmunoglobulin E Syndrome?

Atopic dermatitis, recurrent skin staphylococcal infections, and recurrent pulmonary infections Signup and view all the answers

What is the effect of the mutation in the STAT3 gene in Job's syndrome?

Impaired differentiation of T helper cells into Th1 cells Signup and view all the answers

What is the characteristic laboratory finding in Job's syndrome?

High serum IgE levels Signup and view all the answers

What is the name of the syndrome characterized by faulty granulocyte function and elevated IgE levels?

Hyper-IgE syndrome Signup and view all the answers

Which of the following is NOT a feature of Job's syndrome?

Neutropenia Signup and view all the answers

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 Signup and view all the answers

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 Signup and view all the answers

What is the primary function of hepcidin in iron homeostasis?

It inhibits iron absorption by decreasing the production of ferroportin Signup and view all the answers

What is the characteristic of stage 2 iron deficiency?

Hemoglobin content of reticulocytes begins to decrease Signup and view all the answers

What is the effect of iron deficiency on iron-dependent tissues?

It begins to affect the tissues, such as muscles Signup and view all the answers

What is the significance of soluble transferrin receptor (sTfR) levels in iron deficiency?

It increases as the body tries to capture available iron Signup and view all the answers

What is the characteristic of stage 3 iron deficiency?

Frank anemia is evident Signup and view all the answers

What is the primary mechanism by which matriptase-2 protein leads to iron deficiency?

It leads to the production of hepcidin, which inactivates ferroportin Signup and view all the answers

Which group of individuals is at especially high risk of developing iron deficiency?

Menstruating women Signup and view all the answers

What is the primary cause of iron deficiency in soldiers and long-distance runners?

Exercise-induced hemoglobinuria Signup and view all the answers

What is a common laboratory finding in early stages of iron deficiency?

Elevated RDW Signup and view all the answers

What is the primary role of transferrin in iron deficiency diagnosis?

To detect low iron levels in the blood Signup and view all the answers

What is the characteristic change observed in red blood cells in iron deficiency anemia?

Anisocytosis and microcytosis Signup and view all the answers

What is the primary significance of MCV, MCH, and MCHC in iron deficiency diagnosis?

They are decreased in iron deficiency Signup and view all the answers

What is the role of biochemical iron studies in iron deficiency diagnosis?

They are the primary diagnostic tools Signup and view all the answers

What is the characteristic shape change observed in red blood cells in iron deficiency anemia?

Target cells and elliptocytes Signup and view all the answers

What is the primary purpose of lab testing in hemochromatosis?

To screen for the condition and diagnose the cause of organ damage Signup and view all the answers

Which of the following can promote iron absorption in normal individuals?

Ascorbic acid and alcohol Signup and view all the answers

What is the significance of elevated transferrin saturation or serum ferritin in hemochromatosis?

It is a screening test for hereditary hemochromatosis Signup and view all the answers

What is the purpose of liver biopsy in hemochromatosis?

To assess the degree of organ damage Signup and view all the answers

What is the role of genetic testing in hemochromatosis?

To provide confirmation of the diagnosis Signup and view all the answers

What is the significance of serum ferritin in hemochromatosis?

It is a monitoring test for iron overload Signup and view all the answers

What is the significance of albumin levels in hemochromatosis?

It is a helpful indicator of liver synthetic function Signup and view all the answers

What is the significance of Hgb concentration and Hct in hemochromatosis?

They are inexpensive tests that can also be used to monitor treatment Signup and view all the answers

What is the primary reason for the ineffectiveness of Vit.E and C in iron overload?

Their mechanisms are overwhelmed by the excess iron Signup and view all the answers

How long does it take for hemoglobin levels to return to normal after initiation of adequate treatment?

2 months Signup and view all the answers

What is the typical age range when Classic Hereditary Hemochromatosis becomes severe?

40-60 years Signup and view all the answers

Why do affected women have a lower frequency of clinical disease expression?

Blood loss associated with menstruation and childbirth prevents excess iron Signup and view all the answers

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 Signup and view all the answers

What is the name given to the condition characterized by hemosiderin deposition in the skin, cirrhosis-induced jaundice, and diabetes?

Bronzed diabetes Signup and view all the answers

Why is it essential to continue iron therapy for an additional 3-4 months?

To replenish the storage pool and prevent relapse Signup and view all the answers

What is the consequence of excessive iron accumulation in the heart muscle?

Congestive heart failure Signup and view all the answers

What is the likely cause of iron deficiency in most instances?

Dietary deficiency Signup and view all the answers

What should be considered if the patient fails to respond to iron treatment?

Continued occult blood loss or inadequate absorption Signup and view all the answers

Why are patients with Hemochromatosis more prone to hepatocellular carcinoma?

Due to the mutation of the p53 tumor suppressor gene Signup and view all the answers

How much iron do patients with Classic Hereditary Hemochromatosis typically harbor by the time their disease becomes severe?

20-30g Signup and view all the answers

What is the significance of normocytic cells in the peripheral blood film and indices?

They eventually predominate over the microcytic RBC population Signup and view all the answers

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 Signup and view all the answers

What should be investigated if the patient has been adherent to the therapeutic regimen?

Continued occult blood loss or inadequate absorption Signup and view all the answers

What is the significance of hereditary causes of iron deficiency?

They are rarely diagnosed Signup and view all the answers

What is the primary underlying cause of Primary Hemolytic Anemias?

Hemolysis Signup and view all the answers

What type of hemolytic anemia is characterized by abnormalities of RBC membranes, enzymatic pathways or HGB molecule?

Inherited Hemolytic Anemia Signup and view all the answers

What is the consequence of anemia of chronic inflammation?

Iron Deficiency Anemia Signup and view all the answers

What is the classification of Paroxysmal Nocturnal Hemoglobinuria?

Intrinsic Hemolytic Anemia Signup and view all the answers

What is the characteristic of Acquired Hemolytic Anemia?

Previously hematologically normal but acquired an agent or condition that causes lysis of RBCs Signup and view all the answers

What is the consequence of chronic hemolytic anemia?

Bone Marrow Compensation Signup and view all the answers

What is the clinical feature that develops with chronic macrophage-mediated hemolytic processes?

Bone deformities Signup and view all the answers

What is the name given to jaundice caused by hemolysis?

Prehepatic jaundice Signup and view all the answers

What is the laboratory test used to detect hemosiderin in the urine sediment?

Prussian blue stain Signup and view all the answers

What is the characteristic feature of the urine in acute fragmentation hemolysis?

Brown color Signup and view all the answers

What is the potential complication of hemolysis?

Acute renal failure Signup and view all the answers

What is the clinical feature of anemia in hemolytic anemia?

Tachycardia and pallor Signup and view all the answers

What is the primary function of platelets in the circulation?

Surveillance of blood vessel continuity Signup and view all the answers

What is the term for the stoppage of blood flow?

Hemostasis Signup and view all the answers

What is the role of platelets in primary hemostasis?

Forming a primary hemostatic plug Signup and view all the answers

What are the three components of hemostasis?

Extravascular, vascular, and tissue repair Signup and view all the answers

What is the response of the coagulation process in hemostasis?

Production of a stable clot due to coagulation factors Signup and view all the answers

What is the function of platelets in secondary hemostasis?

Providing a surface for coagulation factors Signup and view all the answers

What is the primary function of the vascular component in hemostasis?