Red Blood Cell Membrane Proteins Quiz

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Questions and Answers

What type of proteins primarily make up the hexagonal lattice in red blood cells?

  • Spectrin tetramers (correct)
  • Collagen fibers
  • Actin monomers
  • Globular proteins

What is the approximate distance of globular ankyrin structures from the distal ends of spectrin filaments?

  • 60 nm
  • 80 nm (correct)
  • 100 nm
  • 50 nm

Which component is found in cross-linking junctional complexes along with protein 4.1?

  • Intermediate filaments
  • F-actin filaments (correct)
  • Myosin filaments
  • Microtubules

What condition is associated with hereditary spherocytosis based on membrane protein properties?

<p>Hereditary pyropoikilocytosis (D)</p> Signup and view all the answers

What staining method is used to separate proteins via SDS–PAGE?

<p>Coomassie blue (A)</p> Signup and view all the answers

What is the inheritance pattern for Hereditary Stomatocytosis in most patients with severe hemolysis?

<p>Autosomal dominant or recessive (B)</p> Signup and view all the answers

What primarily causes the swelling of erythrocytes in Hereditary Stomatocytosis?

<p>Defect in sodium permeability (A)</p> Signup and view all the answers

Which cells are characteristic of a blood smear from a patient with Hereditary Xerocytosis?

<p>Target cells and dehydrated cells (B)</p> Signup and view all the answers

What is the main cause of cell dehydration in Hereditary Xerocytosis?

<p>Loss of potassium (D)</p> Signup and view all the answers

Which abnormality is associated with Hereditary Stomatocytosis?

<p>Abnormal permeability to sodium and potassium (D)</p> Signup and view all the answers

What is the classification of hereditary defects affecting the red cell membrane primarily based on?

<p>Phenotypic effects (C)</p> Signup and view all the answers

Which type of hereditary defect is characterized by spherocytes?

<p>Hereditary spherocytosis (D)</p> Signup and view all the answers

The defect in which kind of interaction contributes to spherocyte formation?

<p>Vertical interactions (C)</p> Signup and view all the answers

Which of the following disorders is included in morphologically related disorders to hereditary elliptocytosis?

<p>Hereditary pyropoikilocytosis (A)</p> Signup and view all the answers

Hereditary acanthocytosis results from defects primarily affecting which aspect of red cell morphology?

<p>Cell shape changes (A)</p> Signup and view all the answers

Defects in spectrin dimer self-association primarily lead to which type of red cell alteration?

<p>Elliptocytes (B)</p> Signup and view all the answers

Which hereditary defect is characterized by a defect in the horizontal interaction of the red cell membrane?

<p>Hereditary elliptocytosis (D)</p> Signup and view all the answers

Hereditary xerocytosis is primarily associated with which type of morphological change?

<p>Decreased cell volume (C)</p> Signup and view all the answers

What red cell morphology is commonly associated with hereditary spherocytosis?

<p>Spherocytes (C)</p> Signup and view all the answers

Which condition is associated with the presence of target cells?

<p>Thalassemias (C)</p> Signup and view all the answers

What red blood cell morphology is associated with acute hepatic necrosis?

<p>Prominent basophilic stippling (D)</p> Signup and view all the answers

In which condition do you expect to see bizarre poikilocytes?

<p>Red cell fragmentation syndrome (A)</p> Signup and view all the answers

Which morphology is typically seen in megaloblastic anemia?

<p>Elliptocytes (C)</p> Signup and view all the answers

What red blood cell morphology is associated with uremia?

<p>Spiculated or crenated red cells (B)</p> Signup and view all the answers

Which red cell morphology indicates hereditary elliptocytosis?

<p>Elliptocytes (C)</p> Signup and view all the answers

What shape do red blood cells take due to the biconcave disc structure?

<p>Biconcave (B)</p> Signup and view all the answers

What condition is associated with intracytoplasmic parasites?

<p>Babesiosis (A), Malaria (D)</p> Signup and view all the answers

Which of the following conditions is related to a defect in the erythropoietic process?

<p>Hereditary xerocytosis (B)</p> Signup and view all the answers

What condition is most consistent with severe hemolytic episodes after exposure to anti-malarial drugs in a patient with congenital non spherocytic hemolytic anemia?

<p>G-6-PD deficiency (D)</p> Signup and view all the answers

Hereditary pyropoikilocytosis (HP) is characterized by which of the following features?

<p>Increased pencil-shaped cells (D)</p> Signup and view all the answers

A patient with congenital non spherocytic hemolytic anemia presents with red cell inclusions. What does this indicate about hemoglobin status?

<p>Hemoglobin denaturation (A)</p> Signup and view all the answers

Which specific symptom did the African-American patient experience after taking primaquine?

<p>Black urine (B)</p> Signup and view all the answers

What is a common result of G-6-PD deficiency when exposed to oxidative drugs?

<p>Formation of bite cells (D)</p> Signup and view all the answers

In patients presenting with hereditary pyropoikilocytosis, what would you expect to see under microscopic examination?

<p>Presence of schistocytes (B)</p> Signup and view all the answers

Which of the following conditions does NOT typically cause red cell inclusions due to hemoglobin denaturation?

<p>Iron deficiency anemia (B)</p> Signup and view all the answers

What is the primary mechanism leading to hemolysis in G-6-PD deficiency?

<p>Oxidative stress (A)</p> Signup and view all the answers

What type of anemia is characterized by the premature destruction of red cells?

<p>Hemolytic anemia (D)</p> Signup and view all the answers

Which of the following is NOT a classification of hemolytic anemia?

<p>Megablastic defects (D)</p> Signup and view all the answers

What is one of the clinical findings associated with hemolytic anemia?

<p>Dark urine (hemoglobinuria) (D)</p> Signup and view all the answers

Which type of hemolytic anemia is related to hereditary defects?

<p>Thalassemia syndrome (B)</p> Signup and view all the answers

Which laboratory test reflects increased red cell destruction in hemolytic anemia?

<p>Serum haptoglobin (D)</p> Signup and view all the answers

What is a characteristic feature of hereditary spherocytosis?

<p>Abnormal red cell membrane (B)</p> Signup and view all the answers

Which condition is classified as an extracorpuscular defect in hemolytic anemia?

<p>Immune hemolytic anemia (A)</p> Signup and view all the answers

What is one reason the bone marrow can increase output in response to hemolytic anemia?

<p>Compensating for anemia (B)</p> Signup and view all the answers

Which of the following conditions leads to increased levels of methemalbumin in the blood?

<p>Intravascular hemolysis (A)</p> Signup and view all the answers

What happens to serum unconjugated bilirubin levels in hemolytic anemia?

<p>They increase (D)</p> Signup and view all the answers

Flashcards

Hemolytic Anemia (HA)

A type of anemia characterized by the premature destruction of red blood cells (RBCs) in the body.

Intracorpuscular Hemolytic Anemia

A group of anemias where the defect causing hemolysis lies within the red blood cell itself.

Extracorpuscular Hemolytic Anemia

A group of anemias where the defect causing hemolysis lies outside the red blood cell.

Hereditary Defects of Red Cell Membrane

A type of intracorpuscular hemolytic anemia caused by defects in the red blood cell membrane.

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Enzyme Defects in Red Blood Cells

A type of intracorpuscular hemolytic anemia caused by defects in the enzymes found in the red blood cell.

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Immune Hemolytic Anemia

A type of extracorpuscular hemolytic anemia caused by immune system attacks on red blood cells.

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Serum Unconjugated Bilirubin

A test that measures the amount of unconjugated (indirect) bilirubin in the blood.

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Hemoglobinemia

A test that measures the amount of hemoglobin in the blood.

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Hemoglobinuria

A test that measures the amount of hemoglobin in the urine.

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Serum Haptoglobin

A test that measures the amount of haptoglobin in the blood.

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Red Blood Cell Membrane Skeleton

A protein network that forms the inner skeleton of red blood cells, providing structural support and flexibility. Imagine it as a mesh or net that gives the cell its shape.

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Spectrin

A key protein in the red blood cell membrane skeleton, forming a hexagonal lattice that gives the cell its shape and stability. The building blocks of this lattice are spectrin tetramers, hexamers, and double tetramers.

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Junctional Complexes

Junctional complexes are found within the red blood cell membrane skeleton and play a crucial role in maintaining the cell's integrity. They contain short F-actin filaments and protein 4.1, which cross-link spectrin filaments.

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Ankyrin

Ankyrin is a protein that binds to spectrin filaments and helps anchor the membrane skeleton to the cell's plasma membrane. It plays a vital role in maintaining the cell's shape and integrity.

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Hereditary Membrane Defects

Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP), and Southeast Asian ovalocytosis (SAO) are all inherited hemolytic anemias caused by defects in the red blood cell membrane. These defects affect proteins involved in the membrane's structure, leading to increased fragility and destruction of the red blood cells.

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Spherocytes

A condition where red blood cells are abnormally shaped like spheres, often caused by hereditary spherocytosis or acquired factors like oxidant injury.

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Elliptocytes

A condition where red blood cells are abnormally shaped like ellipses or ovals, often caused by hereditary elliptocytosis, iron deficiency, or megaloblastic anemia.

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Bizarre Poikilocytes

Red blood cells that exhibit an unusual or irregular shape, often associated with fragmentation syndrome, microangiopathic and macroangiopathic hemolytic anemias.

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Stomatocytes

Red blood cells with a mouth-like central pallor, often caused by hereditary stomatocytosis or related disorders.

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Irreversibly Sickled Cells

Characterized by sickle-shaped red blood cells (sickle cells), primarily due to sickle cell anemia or related syndromes.

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Intraerythrocytic Parasites

Presence of parasitic organisms within red blood cells, commonly associated with malaria, babesiosis, or bartonellosis.

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Prominent Basophilic Stippling

A condition where red blood cells have numerous dense blue staining granules visible under a microscope, often linked to thalassemias, lead poisoning, or unstable hemoglobins.

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Spiculated or Crenated Red Cells

Red blood cells with irregularly spaced projections or spicules, often caused by acute hepatic necrosis, uremia, or infantile pyknocytosis.

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Target Cells

Red blood cells that have a central area of pallor resembling a 'bullseye', often associated with hemoglobinopathies like S, C, D, and E, thalassemias, and hereditary xerocytosis.

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Nonspecific or Normal Morphology

A wide range of conditions affecting the red blood cell membrane that can result in normal or nonspecific red cell morphology.

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Hereditary Stomatocytosis

A type of inherited hemolytic anemia characterized by abnormally shaped red blood cells due to defects in the red blood cell membrane.

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Hydrocytosis

A type of hereditary stomatocytosis where red blood cells experience increased swelling and water content due to abnormal cation permeability, leading to an accumulation of sodium ions inside the cells.

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Hereditary Xerocytosis

A type of hereditary stomatocytosis where red blood cells lose potassium ions, leading to dehydration and a characteristic "Xerocytosis" which means "dry cell" in Greek.

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Hereditary Xerocytosis

A type of inherited hemolytic anemia characterized by abnormally shaped red blood cells with a central slit of pallor. Often, the cells appear target-shaped.

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Hereditary Spherocytosis (HS)

Red blood cell membrane defects causing a spherical shape, often due to problems with spectrin-ankyrin-band 3 associations and spectrin-inner layer of the phospholipid bilayer.

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Hereditary Elliptocytosis (HE)

Red blood cell membrane defects leading to an elliptical shape, often due to problems with spectrin dimer self-association and spectrin-actin-protein 4.1 complex formation.

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Hereditary Pyropoikilocytosis (HPP)

A severe form of Hereditary Elliptocytosis with fragile red blood cells, often with a fragmented appearance.

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Hereditary Acanthocytosis

Red blood cell membrane defects causing the formation of thorny projections on the cell, often due to mutations in the gene for band 3 protein.

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Vertical Interactions in Red Cell Membrane Defects

Defects in the red blood cell membrane primarily affecting vertical interactions between proteins, leading to a spherical shape.

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Horizontal Interactions in Red Cell Membrane Defects

Defects in the red blood cell membrane primarily affecting horizontal interactions between proteins, leading to a more elliptical or fragmented shape.

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G-6-PD Deficiency

A genetic deficiency of glucose-6-phosphate dehydrogenase (G6PD), an enzyme involved in red blood cell (RBC) metabolism. This deficiency makes RBCs more vulnerable to oxidative damage, leading to hemolysis, especially in response to certain triggers like anti-malarial drugs.

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Thalassemia Major

A severe form of thalassemia, a group of genetic blood disorders characterized by reduced or absent production of globin chains, essential components of hemoglobin. This leads to ineffective erythropoiesis (red blood cell production) and chronic anemia.

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Pyruvate Kinase Deficiency

A deficiency in the enzyme pyruvate kinase, crucial for red blood cell energy production. This leads to decreased ATP (energy) in RBCs, making them more susceptible to damage and hemolysis.

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How are Hereditary Stomatocytosis and Hereditary Xerocytosis similar?

Hereditary Stomatocytosis and Hereditary Xerocytosis are both inherited hemolytic anemias caused by defects in the red blood cell membrane. The defects affect the membrane's permeability to sodium and potassium ions. This leads to either swelling (Hydrocytosis) or dehydration (Xerocytosis) of the red blood cells.

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What happens when a person has Hereditary Stomatocytosis?

Hereditary stomatocytosis is a type of hemolytic anemia, which means red blood cells are destroyed prematurely. This leads to anemia, as the body lacks enough healthy red blood cells to carry oxygen.

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Study Notes

Hemolytic Anemia

  • Hemolytic anemia (HA) is a heterogeneous group of normocytic normochromic anemias characterized by premature destruction of red blood cells (RBCs) or a shortened RBC life span.
  • Bone Marrow (BM) can increase its output 6-8 fold to compensate for the anemia; which corresponds to an RBC life span of 15-20 days.

Hemolytic Anemia Classification

  • Intracorpuscular Defects:
    • Hereditary defects:
      • Defects in RBC membrane.
      • Enzyme defects.
      • Hemoglobinopathies.
      • Thalassemia syndrome
    • Acquired defects: Paroxysmal nocturnal hemoglobinuria (PNH)
  • Extracorpuscular Defects:
    • Immune hemolytic anemia.
    • Infections.
    • Exposure to chemicals and toxins.
    • Exposure to physical agents.
    • Microangiopathic and macroangiopathic hemolytic anemias.
    • Splenic sequestration (hypersplenism)
    • General systemic disorders (in which hemolysis is not the dominant feature of the anemia.)

Diagnosis of Hemolytic Anemia (HA)

  • Establish the presence of hemolysis:
    • Tests reflecting increased RBC destruction:
      • Serum un-conjugated (indirect) bilirubin
      • Hemoglobinemia
      • Hemoglobinuria (dark urine)
      • Hemosiderinuria (iron storage protein in a spun deposit of urine)
      • Methemalbumin in blood (Schumm’s test)
      • Methemoglobinemia
      • Serum Hemopexin
      • Serum Haptoglobin
      • Urine urobilinogen & fecal stercobilinogen
  • Tests reflecting increased RBC production
    • Reticulocyte count
    • Reticulocyte production index (RPI)
    • Bone Marrow (BM) erythroid hyperplasia, M:E ratio from 3-4:1 is reduced to 1:1 or even reversed.
    • RPI >2.5-3.0 is indicative of HA

Degradation of Hb After Intra- & Extravascular Hemolysis

  • When present in large quantities, met-albumin and hemopexin-heme complex imparts a brownish color to plasma.
  • Results in hemoglobinuria, hemosiderinuria and urobilinogenuria.

Other important aspects

  • Red cell membrane structure is determined by biconcave disc shape which is a result of Excess SA:Volume ratio; cell volume is 90 µm³ while SA is ~140 µm³.

  • Red cell membrane skeleton network is composed of proteins like spectrin, actin, ankyrin, band 4.1, adducin, etc.

  • Hereditary defects of RBC membrane:

    • Hereditary spherocytosis (HS)
    • Hereditary elliptocytosis (HE)
    • Hereditary pyropoikilocytosis (HPP)
    • Hereditary stomatocytosis
    • Hereditary xerocytosis
    • Hereditary acanthocytosis
  • Hereditary Enzyme deficiencies:

    • Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
    • Pyruvate Kinase (PK) Deficiency
    • Methemoglobin Reductase Deficiency

Assessment Questions

  • Assessment questions are provided.

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