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ABNORMALITIES OF BLOOD
AND
CLOTTING FACTORS
ANUGYA JAISWAL
BSc. (HONS.) BIOTECHNOLOGY
OVERVIEW
• INTRODUCTION
• ABNORMALITY OF BLOOD
• DISORDER OF RBC
• DISORDER OF WBC
• DISORDER OF PLATELETS
• DISORDER OF PLASMA
• DISORDER OF CLOTTING FACTOR
INTRODUCTION
• Blood is a transporting fluid that carries vital substances
to all parts of the body.
• Blood composed of RBSs, WBCs, Platelets & Plasma
• An abnormality of drug and clotting factor is a condition
that affects the way your blood normally clots. The
clotting process, also known as coagulation, changes
blood from a liquid to a solid.
• Bleeding disorders can cause abnormal bleeding both
outside and inside the body. Some disorders can
drastically increase the amount of blood leaving your
body.
ABNORMALITY OF BLOOD
Abnormalities of blood includes disorders related to
• RBC
• WBC
• Platelets
• Plasma
• Clotting Factor
DISORDER OF RBC
ANEMIA
• ↓RBC count
• Deficiency of haemoglobin
• ↓Oxygen carrying capacity
TYPES OF ANEMIA
• Iron deficiency anemia
• Pernicious anemia
• Sickle cell anemia
• Aplastic anemia
• Haemolytic anemia
POLYCYTHEMIA
• ↑RBC count
• ↑viscosity of blood
• ↓ Rate of flow
• ↑ Risk of Intravascular clotting
IRON DEFICIENCY ANEMIA
• Caused by lack of dietary iron
• Not enough iron to form sufficient haemoglobin
Pernicious anemia
• Deficiency of Vitamin B12 (animal food).
• Vitamin B12- Essential for maturation of RBC
• Formation of immature RBC (large in size and fragile)
• Also called megaloblastic anemia
Sickle cell anemia
• Genetic disorder of haemoglobin
• Change in shape of RBC and formation of sickle shape
RBC which clog the capillaries.
• Capillaries get ruptured and internal bleeding starts
Aplastic anemia
• suppression of Red bone marrow
• Decrease in RBC production
• Decrease in WBC production
• Decrease in platelet production
• Caused due to exposure to
radiation and chemical agents
like benzene
Haemolytic anemia
• Rupture of RBC before completing the life span (120 days).
• Generally patients with haemolytic anemia are susceptible for
• Jaundice-due to increase in production of Bilirubin.
• Malaria- protozoa destroys RBC
DISORDER OF WBC
LEUKOCYTOSIS
Increase in count of WBC
(more than 10,000
WBC/mm3 of blood)
Leukocytosis is classified in
3 sub categories:
• Neutrophilia
• Eosinophilia
• Leukemia
LEUKOPENIA
Decrease in number of
WBC, due to infection or
drugs.
Leukopenia is classified in
3 sub categories:
• Neutropenia
• Lymphopenia
• Eosinopenia
leukocytosis
leukopenia
Disorder of platelets
THROMBOCYTOPENIA
• ↓ platelet production, results
in petechial haemorrhage –
a small red spot caused by
bleeding into the skin.
• ↑increase in bleeding time
• Defect in the retraction of
clot
Disorder of platelets
THROMBOCYTOSIS
• ↑ platelet count above
normal level.
• Caused by increased bone
marrow stimulation
• bone fracture,
splenectomy, rheumatic
fever etc.
Qualitative platelet disorders – acquired`
• caused due to ingestion of certain
drugs.
• Uremia - metabolites that are
toxic to the platelets accumulate
in the plasma.
• Platelet release reaction,
aggregation, retention are all
abnormal & bleeding time is
prolonged.
• Platelet dysfunction & bleeding
disorders will be present in the
various PARAPROTEINEMIA
Qualitative platelet disorders - congenital
Platelet Adhesion Disorder
1. Bernard- soulier syndrome
• Inherited as an autosomal
recessive trait.
• Giant platelets (20um in
diameter)
• Mild thrombocytopenia
2. Von - Willebrand’s disease
impaired platelet adhesion
• Monomers link in endoplasmic
reticulum form dimers
• vWF dimers move to Golgi form
multimers
Platelet Aggregation Defects
• Platelets do not bind with
fibrinogen and other proteins in
order to stick to other platelets, as
a result the platelets cannot form a
plug to stop the bleeding from a
damaged blood vessel.
• “Also called Glanzmann’s
thrombosthenia- inherited
bleeding disorder characterized by
failure of platelets to aggregate
when stimulated with adenosine
diphosphate or other physiologic
agonists.
Cont…
Platelet Secretion Defect
• A secretion disorder is when the
damaged blood vessel takes
more time for the bleeding to
stop due to missing chemicals
that signals the platelets to stick
together.as a result it takes a lot
longer to stop this is the most
common platelet disorder.
Hereditary forms of platelet
dysfunction
Ehlers-Danlos syndrome- very large
platelets & abnormalities in platelets
adhesion & aggregation
Hereditary Afibrinogenemia
• Abnormal platelet aggregation with
ADP , prolonged bleeding time
PLASMA DISORDER
Multiple Myeloma
• Malignancy of plasma cells
• Dependent on IL-6
• Required for myeloma cell
proliferation
• Excess production of
immunoglobulin
• Disorder of older patients (median
age: 66)
Rouleaux formation
• RBCs form a stack of coins
• Caused by elevated protein levels
in plasma
Plasma disorder
Monoclonal gammopathy of
undetermined significance
• Asymptomatic plasma cell
disorder
• Abnormal SPEP
(presence of M protein)
• No end-organ damage
• Can progress to multiple
myeloma
• Often detected in workup of
another problem
• Anemia
• Hypercalcemia
• Bone pain
Plasma disorder
Waldenstrom
Macroglobulinemia
• Also called lymphoplasmacytic
lymphoma
• B-cell lymphoma
• Tumor cells differentiate into plasma
cells
• Produce IgM antibodies
• Leads to hyperviscosity symptoms
• Weakness, fatigue, weight loss
• Lymphadenopathy (25% of patients)
• No osteolytic bone lesions
• SPEP: M spike from IgM
Hyperviscosity Syndrome
• IgM increases viscosity of
blood
• Sluggish blood flow and
sludging
• CNS: Headache, dizziness,
coma
• Visual impairment
• Medical emergency:
emergent plasmapheresis
Clotting factor disorder
• Clotting factors are
proteins in the blood that
help control bleeding.
When a clotting factor is
missing or does not work
properly, the coagulation
process malfunctions and
bleeding continues for
longer than it should.
Disorders
• Haemophilia A, B, C
• Fibrinogen deficiency
• Prothrombin deficiency
• Congenital Antithrombin III
Deficiency
• Proaccelerin deficiency
• Stuart-Prower factor deficiency
• Hageman factor deficiency
• Fibrin stabilizing factor
deficiency
• Alexander’s disease
HAEMOPHILIA
• Haemophilia- caused
due to absence of
factor VIII
(antihaemophilic Factor)
• Disease occurs in men.
• Genetically transmitted
through female
Thrombosis
• intravascular clotting,
caused due to roughing
and thickening of
blood vessel.
• factor VII and
prothrombin are
associated with an
increased risk of
thrombosis
REFERENCE
• https://youtu.be/229Ow4tRnT8
• https://www.slideshare.net/zhariffadzilah/anaemia-in-
pregnancy-17-nov2012
• https://www.msdmanuals.com/home/blood-
disorders/bleeding-due-to-clotting-disorders/overview-
of-blood-clotting-disorders
• http://www.waldenstroms.com/images/news/NCCN_201
7_WM.pdf
• Marengo-Rowe AJ. The thalassemias and related
disorders. Proc (Bayl Univ Med Cent). 2007; 20: 27-31
THANK YOU

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Abnormalities of blood & clotting factors

  • 1. ABNORMALITIES OF BLOOD AND CLOTTING FACTORS ANUGYA JAISWAL BSc. (HONS.) BIOTECHNOLOGY
  • 2. OVERVIEW • INTRODUCTION • ABNORMALITY OF BLOOD • DISORDER OF RBC • DISORDER OF WBC • DISORDER OF PLATELETS • DISORDER OF PLASMA • DISORDER OF CLOTTING FACTOR
  • 3. INTRODUCTION • Blood is a transporting fluid that carries vital substances to all parts of the body. • Blood composed of RBSs, WBCs, Platelets & Plasma • An abnormality of drug and clotting factor is a condition that affects the way your blood normally clots. The clotting process, also known as coagulation, changes blood from a liquid to a solid. • Bleeding disorders can cause abnormal bleeding both outside and inside the body. Some disorders can drastically increase the amount of blood leaving your body.
  • 4. ABNORMALITY OF BLOOD Abnormalities of blood includes disorders related to • RBC • WBC • Platelets • Plasma • Clotting Factor
  • 5. DISORDER OF RBC ANEMIA • ↓RBC count • Deficiency of haemoglobin • ↓Oxygen carrying capacity TYPES OF ANEMIA • Iron deficiency anemia • Pernicious anemia • Sickle cell anemia • Aplastic anemia • Haemolytic anemia POLYCYTHEMIA • ↑RBC count • ↑viscosity of blood • ↓ Rate of flow • ↑ Risk of Intravascular clotting
  • 6. IRON DEFICIENCY ANEMIA • Caused by lack of dietary iron • Not enough iron to form sufficient haemoglobin
  • 7. Pernicious anemia • Deficiency of Vitamin B12 (animal food). • Vitamin B12- Essential for maturation of RBC • Formation of immature RBC (large in size and fragile) • Also called megaloblastic anemia
  • 8. Sickle cell anemia • Genetic disorder of haemoglobin • Change in shape of RBC and formation of sickle shape RBC which clog the capillaries. • Capillaries get ruptured and internal bleeding starts
  • 9. Aplastic anemia • suppression of Red bone marrow • Decrease in RBC production • Decrease in WBC production • Decrease in platelet production • Caused due to exposure to radiation and chemical agents like benzene
  • 10. Haemolytic anemia • Rupture of RBC before completing the life span (120 days). • Generally patients with haemolytic anemia are susceptible for • Jaundice-due to increase in production of Bilirubin. • Malaria- protozoa destroys RBC
  • 11. DISORDER OF WBC LEUKOCYTOSIS Increase in count of WBC (more than 10,000 WBC/mm3 of blood) Leukocytosis is classified in 3 sub categories: • Neutrophilia • Eosinophilia • Leukemia LEUKOPENIA Decrease in number of WBC, due to infection or drugs. Leukopenia is classified in 3 sub categories: • Neutropenia • Lymphopenia • Eosinopenia
  • 14. Disorder of platelets THROMBOCYTOPENIA • ↓ platelet production, results in petechial haemorrhage – a small red spot caused by bleeding into the skin. • ↑increase in bleeding time • Defect in the retraction of clot
  • 15. Disorder of platelets THROMBOCYTOSIS • ↑ platelet count above normal level. • Caused by increased bone marrow stimulation • bone fracture, splenectomy, rheumatic fever etc.
  • 16. Qualitative platelet disorders – acquired` • caused due to ingestion of certain drugs. • Uremia - metabolites that are toxic to the platelets accumulate in the plasma. • Platelet release reaction, aggregation, retention are all abnormal & bleeding time is prolonged. • Platelet dysfunction & bleeding disorders will be present in the various PARAPROTEINEMIA
  • 17. Qualitative platelet disorders - congenital Platelet Adhesion Disorder 1. Bernard- soulier syndrome • Inherited as an autosomal recessive trait. • Giant platelets (20um in diameter) • Mild thrombocytopenia 2. Von - Willebrand’s disease impaired platelet adhesion • Monomers link in endoplasmic reticulum form dimers • vWF dimers move to Golgi form multimers Platelet Aggregation Defects • Platelets do not bind with fibrinogen and other proteins in order to stick to other platelets, as a result the platelets cannot form a plug to stop the bleeding from a damaged blood vessel. • “Also called Glanzmann’s thrombosthenia- inherited bleeding disorder characterized by failure of platelets to aggregate when stimulated with adenosine diphosphate or other physiologic agonists.
  • 18.
  • 19. Cont… Platelet Secretion Defect • A secretion disorder is when the damaged blood vessel takes more time for the bleeding to stop due to missing chemicals that signals the platelets to stick together.as a result it takes a lot longer to stop this is the most common platelet disorder. Hereditary forms of platelet dysfunction Ehlers-Danlos syndrome- very large platelets & abnormalities in platelets adhesion & aggregation Hereditary Afibrinogenemia • Abnormal platelet aggregation with ADP , prolonged bleeding time
  • 20. PLASMA DISORDER Multiple Myeloma • Malignancy of plasma cells • Dependent on IL-6 • Required for myeloma cell proliferation • Excess production of immunoglobulin • Disorder of older patients (median age: 66) Rouleaux formation • RBCs form a stack of coins • Caused by elevated protein levels in plasma
  • 21. Plasma disorder Monoclonal gammopathy of undetermined significance • Asymptomatic plasma cell disorder • Abnormal SPEP (presence of M protein) • No end-organ damage • Can progress to multiple myeloma • Often detected in workup of another problem • Anemia • Hypercalcemia • Bone pain
  • 22. Plasma disorder Waldenstrom Macroglobulinemia • Also called lymphoplasmacytic lymphoma • B-cell lymphoma • Tumor cells differentiate into plasma cells • Produce IgM antibodies • Leads to hyperviscosity symptoms • Weakness, fatigue, weight loss • Lymphadenopathy (25% of patients) • No osteolytic bone lesions • SPEP: M spike from IgM Hyperviscosity Syndrome • IgM increases viscosity of blood • Sluggish blood flow and sludging • CNS: Headache, dizziness, coma • Visual impairment • Medical emergency: emergent plasmapheresis
  • 23.
  • 24. Clotting factor disorder • Clotting factors are proteins in the blood that help control bleeding. When a clotting factor is missing or does not work properly, the coagulation process malfunctions and bleeding continues for longer than it should. Disorders • Haemophilia A, B, C • Fibrinogen deficiency • Prothrombin deficiency • Congenital Antithrombin III Deficiency • Proaccelerin deficiency • Stuart-Prower factor deficiency • Hageman factor deficiency • Fibrin stabilizing factor deficiency • Alexander’s disease
  • 25. HAEMOPHILIA • Haemophilia- caused due to absence of factor VIII (antihaemophilic Factor) • Disease occurs in men. • Genetically transmitted through female
  • 26. Thrombosis • intravascular clotting, caused due to roughing and thickening of blood vessel. • factor VII and prothrombin are associated with an increased risk of thrombosis
  • 27. REFERENCE • https://youtu.be/229Ow4tRnT8 • https://www.slideshare.net/zhariffadzilah/anaemia-in- pregnancy-17-nov2012 • https://www.msdmanuals.com/home/blood- disorders/bleeding-due-to-clotting-disorders/overview- of-blood-clotting-disorders • http://www.waldenstroms.com/images/news/NCCN_201 7_WM.pdf • Marengo-Rowe AJ. The thalassemias and related disorders. Proc (Bayl Univ Med Cent). 2007; 20: 27-31