Blood Disorders and Genetics Quiz

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Questions and Answers

What is the result of a mutation leading to hemophilia?

  • Insufficient clotting factors (correct)
  • Normal clotting factors
  • Increased platelet production
  • Excessive clotting factors

Sickle cell disease alleles provide no protection against malaria.

False (B)

What is a major consequence of polycythemia?

Thickened blood

Hemophilia is more common in __________ because they have only one X chromosome.

<p>males</p> Signup and view all the answers

Match the following blood-related terms with their descriptions:

<p>Thrombosis = Formation of a blood clot in a vessel Embolism = Obstruction of a blood vessel by a clot ABO Blood Group = System for classifying blood types Coagulation Factors = Proteins essential for blood clotting</p> Signup and view all the answers

What is the effect of factor XIII(13) in blood clotting?

<p>Stabilizes fibrin threads (A)</p> Signup and view all the answers

If clots form too easily, it may result in hemorrhage.

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

What are the antibodies that bind to A and B antigens called?

<p>agglutinins</p> Signup and view all the answers

Excessive blood loss from a failure to form clots may result in ______________.

<p>hemorrhage</p> Signup and view all the answers

Match the conditions to their definitions:

<p>Thrombosis = Formation of a blood clot inside a blood vessel Embolism = Blockage of a blood vessel by a clot or debris Hemorrhage = Excessive loss of blood Agglutination = Clumping of erythrocytes due to antibodies</p> Signup and view all the answers

What blood types can an individual with blood type O safely receive?

<p>Only Type O (D)</p> Signup and view all the answers

Julia is blood type O and makes antibodies against ______________ antigens.

<p>A and B</p> Signup and view all the answers

Which of the following components of blood is primarily responsible for hemostasis?

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

The extrinsic clotting pathway is primarily activated by internal factors of the bloodstream.

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

What is the scientific study of blood and blood-forming tissues called?

<p>hematology</p> Signup and view all the answers

Blood accounts for approximately ___% of total body mass.

<p>8</p> Signup and view all the answers

Match the blood group with its characteristics:

<p>A = Has A antigens B = Has B antigens AB = Universal recipient O = Universal donor</p> Signup and view all the answers

Which coagulation factor is involved in the common pathway of blood coagulation?

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

Hemolytic disease of the newborn (HDN) can occur when the mother is Rh-negative and the baby is Rh-positive.

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

What is thrombosis?

<p>The formation of a blood clot within a blood vessel.</p> Signup and view all the answers

The primary function of blood involves the transportation of ___, nutrients, hormones, and waste products.

<p>oxygen</p> Signup and view all the answers

What is the correct order of steps in the intrinsic clotting pathway?

<p>Vessel injury, Factor XII activation, Factor X activation (B)</p> Signup and view all the answers

Flashcards

Blood Clotting Regulation

Blood clotting is tightly controlled to prevent damage to blood vessels. Formation of clots must be precisely balanced to avoid thrombosis and hemorrhage.

Thrombosis

A condition characterized by the formation of unnecessary blood clots within blood vessels.

Embolism

The blockage of a blood vessel by an embolus (a blood clot, air bubble, or foreign substance).

ABO Blood Groups

A system of blood classification based on the presence or absence of specific glycolipid antigens on red blood cells (erythrocytes).

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Agglutination

The clumping together of red blood cells (erythrocytes) due to the binding of antibodies to antigens.

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Rh factor

An inherited protein found on the surface of red blood cells, that plays a critical role in blood typing for compatibility in transfusions.

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Hemolytic Disease of the Newborn (HDN)

A condition that can occur during pregnancy when the mother's immune system attacks the baby's red blood cells, potentially causing severe anemia or even death in the newborn.

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Blood composition

Blood consists of formed elements (cells) suspended in a liquid extracellular matrix called blood plasma.

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Blood functions

Blood transports oxygen, nutrients, hormones, heat, and waste products throughout the body.

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Erythropoiesis

The process of red blood cell production.

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White blood cells

Cells involved in the body's immune response.

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Inflammation

A body response to injury or infection.

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Platelets

Small cell fragments involved in blood clotting.

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Hemostasis

The process of stopping bleeding.

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Blood clotting pathways

Intrinsic, extrinsic, and common pathways that result in blood clot formation.

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Blood groups (ABO, Rh)

Classifications of blood based on the presence or absence of specific antigens on red blood cells.

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Sickle Cell Anemia

A genetic disorder caused by a mutation in the globin gene, leading to abnormal hemoglobin and sickle-shaped red blood cells.

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Alleles

Alternative forms of a gene that differ by a mutation, leading to variations in an organism's traits.

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Malaria Resistance

Individuals with at least one sickle cell allele are more resistant to malaria infection due to the altered red blood cell shape.

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Hemophilia

An inherited bleeding disorder caused by a deficiency in clotting factors, leading to excessive bleeding even from minor injuries.

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Polycythemia

A condition characterized by an abnormally high number of red blood cells in the blood, leading to thickened blood and potential for complications.

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Study Notes

Blood Overview

  • Blood is a liquid extracellular matrix with cellular components
  • Blood makes up about 8% of total body mass (5-6 L in males, 4-5 L in females)
  • Blood temperature is kept around 38°C and pH is 7.35-7.45
  • Blood has three main functions: transportation, regulation, and protection

Blood Composition

  • Blood plasma (55%): pale yellow liquid, 91.5% water and 8.5% solutes
    • Mostly proteins (albumin, globulins, fibrinogen)
    • Other solutes (1.5%): electrolytes, nutrients, gases, hormones, wastes
  • Formed elements (45%): erythrocytes, leukocytes, platelets
    • Erythrocytes (red blood cells): most abundant, transport Oâ‚‚ and COâ‚‚
      • Biconcave discs, lack organelles (mitochondria)
      • Contain hemoglobin (Hb) for oxygen binding
      • ~ 120-day lifespan; destroyed by macrophages, iron recycled
    • Leukocytes (white blood cells): various types, defend against infection
      • Granular: neutrophils, eosinophils, basophils (phagocytic, release chemicals)
      • Agranular: lymphocytes, monocytes (phagocytic)
    • Platelets (thrombocytes): fragments of megakaryocytes, crucial for clotting

Blood Cell Formation (Hematopoiesis)

  • Occurs in red bone marrow (axial skeleton and epiphyses of long bones)
  • Begins with pluripotent stem cells
  • Differentiates into myeloid and lymphoid stem cell lines
    • Myeloid: erythrocytes, leukocytes (neutrophils, eosinophils, basophils, monocytes) platelets
    • Lymphoid: lymphocytes

Hematopoeitic Growth Factors

  • Erythropoietin (EPO): from kidneys, stimulates erythrocyte production
  • Thrombopoietin (TPO): from the liver, stimulates platelet formation
  • Cytokines: stimulate leukocyte production

Blood Cell Life Cycle

  • Erythrocytes (RBCs): ~120 day lifespan; broken down continuously
  • Worn-out/damaged RBCs are removed by macrophages in spleen and liver
  • Iron, globin, and heme components are recycled

Blood Clotting (Hemostasis)

  • Prevents hemorrhage
  • Three main steps:
    • Vascular spasm: constriction of blood vessels
    • Platelet plug formation: platelets adhere to damaged endothelium
    • Blood clot formation: insoluble fibrin reinforces platelet plug

Regulation

  • Hypoxia (low oxygen): kidneys release erythropoietin
  • Stimulus: decrease in oxygen delivery to tissues

Blood Types

  • ABO and Rh classifications
  • Based on presence or absence of antigens on erythrocyte membranes
  • Agglutination occurs when antibodies bind to antigens
  • Transfusions require matching blood types (avoiding agglutination reactions).

Blood Diseases

  • Anemia: low erythrocyte count or deficient hemoglobin; can be caused by iron deficiency, vitamin B12 deficiency, etc.
  • Sickle cell disease: genetic mutation in hemoglobin; results in abnormal RBC shape potentially causing clotting.
  • Hemophilia: inherited bleeding disorder where clotting factors are missing or deficient.
  • Polycthimea: too frequently production of RBCs.
  • Hemolytic Disease of the Newborn (HDN): incompatibility of maternal and fetal blood types resulting to erythrocyte destruction; this usually happens during a second pregnancy.

Additional key terms

  • Antibodies: proteins in blood that bind to foreign antigens
  • Antigens: molecules on the surface of cells that trigger immune responses
  • Plasma: liquid component of blood
  • Clotting factors: proteins necessary for blood clot formation.
  • Hemoglobin: protein containing iron, that carries oxygen.
  • Histamine: chemical that induces inflammatory responses.

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