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Week 5: Blood Disorders Flashcards

1
Q

What are some general causes of blood disorders?

A

Blood disorders can be caused by a variety of factors including trauma, chronic disease, surgery, malnutrition, drugs, toxins, radiation, genetic and congenital defects, and sepsis.

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2
Q

Genetics, disease, environment, infection + toxins all affect
_______ production + destruction
_______ production + use
_______ production + use

A

RBC
Platelets
WBC

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3
Q

_________ iron = decreased hemoglobin = decreased oxygen = less ATP produced = less energy

A

Reduced or Deficient

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4
Q

A common consequence of many blood disorders is ______________?

A

An inadequate supply of oxygen to the body’s tissues

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5
Q

What is the basic definition of Anemia?

A

Anemia is a red blood cell defect that can lead to an undersupply of oxygen.

It involves a reduction in the number of erythrocytes and can be either inherited or acquired.

It can result from altered red cell production, blood loss, increased erythrocyte destruction, or a combination.

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6
Q

What does microcytic anemia mean?

A

Small cell anemia
ie:
Iron-deficiency anemia
Thalassaemia

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7
Q

What does macrocytic anemia mean?

A

Large cell anemia
ie:
Vit B 12 Deficiency anemia
Pernicious anemia
Leukaemias

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8
Q

What does Normocytic mean?

A

Normal Cell
ie:
Hemorrhage
Chronic renal failure
Hemolytic

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9
Q

What are erythrocytes?

A

Red Blood Cells

A key feature of erythrocytes is that they lack a nucleus and most organelles, which maximizes space for hemoglobin.

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10
Q

What is Thalassemia?

A

Thalassemia is an inherited mutation of hemoglobin molecules.

Thalassemia causes a reduction in the synthesis or the complete absence of one of the globin chains that form hemoglobin.

It can result from defects in either the alpha or beta globin chain.

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11
Q

What is an Alpha Globin chain?

A

A crucial component of hemoglobin, the protein in red blood cells responsible for oxygen transport.

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12
Q

What type of Thalassemia is more prevalent in South-East Asian and Chinese populations?

A

Alpha

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13
Q

What type of Thalassemia is more common in those of Mediterranean heritage?

A

Beta

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14
Q

What are some complications of Thalassemia?

A

Complications of Thalassemia include erythrocyte destruction, hemolytic anemia, iron overload, and ineffective erythropoiesis. Iron deposition can lead to risks of diabetes, cardiomyopathy, liver fibrosis, and cirrhosis.

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15
Q

What is the pathogenesis of Thalassemia?

A

The imbalance in the number of globin chains causes RBC destruction

Which may lead to Hemolytic Anemia and iron overload in the blood

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16
Q

What is the risk of iron deposition?

A

Risk of diabetes, cardiomyopathy, liver fibrosis or cirrhosis

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17
Q

What is erythropoiesis?

A

The process of red blood cell (RBC) production in the bone marrow which can lead to small RBCs or low RBCs

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18
Q

What is hemolytic anemia?

A

Hemolytic Anemia is a condition in which red blood cells (RBCs) are destroyed (hemolysis) faster than the body can replace them. This leads to a shortage of RBCs

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19
Q

What are the main types of Thalassemia?

A

Alpha Thalassemia (Major and Minor)
Beta Thalassemia (Major and Minor)

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20
Q

What are some signs and symptoms of Thalassemia?

A

Include iron overload (Hemochromatosis), infection, bone deformities, enlarged spleen, slow growth rate, and heart problems.

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21
Q

In Sickle-cell anemia, the RBCs are sickled, and crescent-shaped, while in Thalassemia, RBCs are normal shape but _______ in number and _______ in size (microcytic),

A

Fewer
Smaller

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22
Q

What are complications with Thalassemia?

A

Iron overload, enlarged spleen, bone deformities

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23
Q

What are the complications of Sickle-cell Anemia?

A

Pain, blood clots, stroke, organ failure

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24
Q

What 2 Blood Disorders are characterized by the following?

Reduced or absent production of normal hemoglobin (HbA)

Presence of abnormal hemoglobin (HbS)

A

Thalassemia + Sickle-cell Anemia

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25
What type of anemia is characterized by? Genetic mutation affecting hemoglobin production (alpha or beta globin chains)
Thalassemia
26
What type of anemia is characterized by? Genetic mutation causing abnormal hemoglobin (HbS), leading to sickle-shaped RBCs
Sickle-cell Anemia
27
What is Iron-Deficiency Anemia?
Iron-deficiency anemia is a result of dietary deficiency in iron.
28
Why is iron deficiency anemia often misdiagnosed initially?
Due to non-specific symptoms such as fatigue
29
Iron deficiency anemia responds well to ______?
Dietary supplements + education
30
What are some factors related to Iron-Deficiency Anemia?
Chronic poverty, hookworm infestation, being vegetarian, frequent blood donations, iron-deficient diet, inability to absorb iron, pregnancy, premature infants fed on formula, ulcers, menorrhagia and chronic blood loss.
31
What are some signs and symptoms of Iron-Deficiency Anemia?
Fatigue, weakness, SOB, headaches, irritability, pale conjunctiva, brittle, ridged, spoon-shaped fingernails, tingling numbness, neuromuscular changes, vasomotor disturbances (abnormal regulation of blood vessel diameter) sore, red, painful tongue, angular stomatitis and hyposalivation.
32
What is Pernicious Anemia?
An autoimmune disease of gastric parietal cells.
33
Define 'cytic'
Cell
34
Define 'chromic'
Colour
35
What is the pathogenesis of pernicious anemia?
The condition is caused by antibody attack on parietal cells, reducing intrinsic factor and thus reducing Vitamin B12 + Folate absorption The same condition can develop if there is a dietary deficiency of Vit B12 + Folate
36
What can pernicious anemia lead to?
It leads to macrocytic anemia, atrophy of the gastric mucosa, and the presence of megaloblasts (abnormally large, immature RBCs) in the bone marrow.
37
What can pernicious anemia cause?
Cause leukopenia (low WBC count) thrombocytopenia (low platelet count), and potentially psychiatric and neurological issues.
38
Pernicious anemia is also called?
Megaloblastic anemia
39
What are some factors involved in Pernicious Anemia?
Congenital deficiency of intrinsic factor secretion Secretion of a defective intrinsic factor Failure of vitamin B12 absorption Folate deficiency due to malnutrition, Chronic alcohol abuse, increased metabolic need or drug treatment.
40
What does the loss of B12 + Folate lead to?
Impaired DNA synthesis + proper formation of RBCs
41
What is intrinsic factor?
A glycoprotein produced by parietal cells in the stomach. It plays a crucial role in the absorption of vitamin B12 (cobalamin) in the small intestine.
42
Why can pernicious anemia not manifest until 5-10 years later?
Due to the Liver storing the Vitamin B12 after the onset of parietal cell loss
43
What are some signs and symptoms of Pernicious Anemia?
Multiple infections, mood swings, GI disturbances, cardiac or kidney problems, weakness, fatigue, tingling in hands or feet, reduced appetite, abdominal pain, changes to tongue, sallow coloration of skin and even heart failure.
44
What can occur due to a Vitamin B12 deficiency?
Irreversible neurological changes
45
What are the stages of hemoglobin metabolism?
Synthesis: Hemoglobin is formed in bone marrow from iron, heme, and globin. Transport: RBCs circulate for ~120 days, delivering oxygen and removing CO₂. Breakdown: Macrophages in the spleen degrade RBCs, releasing iron, heme, and globin. Heme degradation: Heme is converted to bilirubin. Bilirubin excretion: The liver processes bilirubin, which is eliminated via bile, urine, and feces.
46
What is Hemolytic Anemia?
The early destruction of erythrocytes, leading to a mismatch between production and destruction, causing a deficit in RBC levels.
47
Pathophysiology of Autoimmune Hemolytic Anemia (AIHA)
Autoimmune Hemolytic Anemia (AIHA) is a condition in which the immune system mistakenly attacks and destroys red blood cells (RBCs), leading to hemolysis (premature RBC destruction) and anemia. Autoantibodies (IgG or IgM) bind to RBCs. Macrophages in the spleen or complement activation leads to RBC destruction. Resulting hemolysis causes anemia, jaundice, and other systemic effects.
48
What are the causes of Hemolytic anemia?
Autoimmune reactions, drugs, trauma, infections, toxins, and inherited mutations of enzymes.
49
What are the signs and symptoms of Hemolytic Anemia?
Pallor, fatigue, irritability and jaundice.
50
What gives urine it's typical yellow color
Urobillin
51
What gives feces its typical brown colour?
Stercobillin because of Heme molecule
52
What is Hemolytic Disease of Newborns?
A condition in which maternal antibodies attack fetal red blood cells (RBCs), leading to hemolysis (RBC destruction) and anemia in the fetus or newborn.
53
Pathophysiology of HDN?
First pregnancy: The Rh-negative mother is sensitized when Rh-positive fetal RBCs enter her bloodstream. Mother’s immune system produces anti-Rh IgG antibodies. Subsequent Pregnancies: If the next fetus is Rh-positive, maternal anti-Rh IgG antibodies cross the placenta. These antibodies bind to fetal RBCs, causing RBC destruction in the fetal spleen. Leads to anemia, jaundice, and potential heart failure.
54
In mild cases of HDN, what are the S/sx?
Baby is pallor with slight enlargement of Spleen + Liver
55
In severe cases of HDN, what are the S/sx? and what can it lead to?
Marked pallor, splenomegaly, and hepatomegaly Leading to heart failure, shock, neonatal jaundice and brain damage
56
What is Sickle Cell Anemia?
Sickle cell anemia is caused by a glutamate-to-valine mutation in the beta globin chain, creating hemoglobin S (HbS). The defective HbS causes erythrocytes to adopt a characteristic sickle shape in response to deoxygenation and dehydration, hypoxia, or acidosis
57
What type of hemoglobin molecule is affected by sickle cell anemia?
Beta Globin where the glutamate is replaced by valine, which produces Hemoglobin S (HbS)
58
What happens when the cell is repeatedly deoxygenated and dehydrated in Sickle Cell
The RBCs become sickled-shaped shaped becoming less flexible to flow through blood vessels
59
What are the signs and symptoms of Sickle Cell Anemia?
Anemia, fatigue, pallor and jaundice. Ischemia due to vascular obstruction can cause pain and organ or tissue damage, leading to organ failure.
60
What does the abnormal shape of sickle cells cause?
The shape prevents normal flow in capillary beds leading to obstruction of blood flow and ischemia of affected tissue/organs
61
What is Polycythemia?
Polycythemia is the overproduction of RBCs,
62
Pathophysiology of Polycythemia?
The overproduction leads to an increase in blood viscosity (sticky, flowing slowly) Trigger- it is a physiological response to hypoxia causing the secretion of erythroproteins (made in KI and affects bone marrow RBC production) and more RBCs It greatly increases the risk of blood clots and cerebral thromboembolism (broken blood clot= stroke) It's often a or can occur in COPD, Congestive Heart Failure patients, or those at high altitudes.
63
What are some signs and symptoms of Polycythemia?
Headache, drowsiness, delirium, changes to vision, chorea, behaviour alterations, including delirium, mania and psychotic depression. Death due to cerebral thrombosis is more common.
64
__________ is the process by which the body stops bleeding after a blood vessel is injured. It involves a complex interaction of blood vessels, platelets, and clotting factors to prevent excessive blood loss while maintaining normal circulation.
Hemostasis
65
What are the three major steps of Hemostasis?
The three major steps of hemostasis in the stoppage of hemorrhage 1. Vasoconstriction 2. Temporary blockage by a platelet plug 3. Blood coagulation (formation of a fibrin clot). This seals the hole until tissues are repaired
66
What is the coagulation cascade?
The coagulation cascade is a series of complex biochemical reactions that lead to the formation of a blood clot (fibrin clot) to stop bleeding. It involves clotting factors (proteins in the blood, mostly made in the liver) that activate each other in a sequential manner
67
What is Hemophilia?
A bleeding disorder resulting from a deficiency in a member of the clotting cascade where the stable blood clot can't develop which then can't stop the bleeding. This can be a deficiency in Factor VIII (hemophilia A), Factor IX (hemophilia B), or Factor XI (hemophilia C).
68
What is Von Willebrand Disease?
Von Willebrand Disease is a group of six disorders involving mutations in the quantity or quality of von Willebrand factor (VWF). This factor is required to maintain the integrity of factor VIII or Factor 8 in the clotting cascade.
69
What is Thrombocytopenia?
A loss of platelets causes non formation of a clot causing further bleeding.
70
What is the pathophysiology of thrombocytopenia?
Primary type Immune thrombocytopenic purpura (ITP) results from an IgG-mediated immune attack on platelet surface antigens. Purpura purple spot under the skin
71
What does the suffix 'penia' mean?
Low
72
What are the signs and symptoms of Thrombocytopenia?
Abnormal bleeding, petechial hemorrhages, purpura, and serious hemorrhages from mucosa, menorrhagia, bleeding gums, and hematuria.
73
What is Porphyria?
A group of rare disorders resulting from a buildup of porphyrins, essential to make hemoglobin molecules. These are natural chemicals essential to make heme. Mutations in enzymes (8) responsible for heme biosynthesis are a hallmark.
74
What are some key features of Porphyria?
Key features of Porphyria include marked behavioural disturbances and pain syndromes.
75
What is Leukemia?
Leukemia is a cancer of the blood and bone marrow that leads to the uncontrolled cell growth of abnormal white blood cells (WBCs).
76
Hallmark of cancer
Is the presence of massive amounts of undifferentiation + immature cells
77
What does the suffix 'oma' mean?
Cancer tumor of the lymphoid tissues
78
What is Lymphoma?
Type of blood cancer that affects the lymphatic system, which is responsible for immune function and fluid balance. It occurs when abnormal WBCs (lymphocytes) multiply uncontrollably and form tumors in lymph nodes or other lymphoid tissues (e.g., spleen, bone marrow). Lymphoma can progress to involve bone marrow and can result in leukemia. Leukemia can't become lymphoma.
79
How are Leukemias classified?
Two types: Lymphocytic (or lymphoblastic): Lymphocytic leukemia is a blood cancer that originates in the bone marrow and spreads to the bloodstream Myelogenous (or myeloid or non-lymphocytic): cancers originate from myeloid stem cells in the bone marrow, platelets synthesis impaired and hemorrhage can occur Each can be either acute or chronic.
80
What are the differences between acute and chronic Leukemia?
Acute leukemia has a rapid onset and abbreviated survival time with undifferentiated or immature cells. Chronic leukemia is characterized by poorly functioning mature cells, gradual onset and a longer survival time.
81
What are the two types of Lymphoma?
The two main types of Lymphoma are Hodgkin's lymphoma- with Reed-Sternberg cell Non-Hodgkin's lymphoma- WITHOUT Reed-Sternberg cell
82
How to differentiate between Hodgkin's and non-Hodgkin's?
They are differentiated by the presence or absence of the Reed-Sternberg cell.
83
What is the Reed-Sternberg Cell in Hodgkin's Lymphoma?
Abnormal lymphocyte WBC
84
What are the signs and symptoms of Hodgkin's Lymphoma?
Painless swelling of lymph nodes, neck, armpits and groins Persistent fatigue, fever and chills, night sweats, unexplained weight loss, loss of appetite, itching, and increased sensitivity to alcohol.
85
What are the signs and symptoms of non-Hodgkin's Lymphoma?
Enlarged lymph nodes and sometimes swollen abdomen, Pair's patches, feeling full after small amounts of food, chest pain or pressure, and shortness of breath or cough Same S/sx of fever, sweating and chills, weight loss, fatigue
86
What is Multiple Myeloma?
Multiple myeloma is a cancer of plasma cells. Tumor of B cells marked by slow growth of bone marrow cells affecting adults. Plasma cells are a type of white blood cell responsible for producing antibodies (immunoglobulins)
87
Causes of Multiple Myeloma?
Age, radiation, regular exposure to herbicides, food poisoning, and agriculture products, genetic mutations in chromosomes 13 + 4-14
88
Pathogenesis of Multiple Myeloma?
Cancerous plasma cells produce vast quantities of non-specific abnormal antibodies (IgG or IgA) in the body however there is no antigen for them to be neutralized causing infiltration into bone marrow and bone matrix and destroying bone
89
What are some signs and symptoms of Multiple Myeloma?
Signs and symptoms of multiple myeloma include back or bone pain associated with fatigue due to bone lesions, risk of multiple fractures, anemia, hypercalcemia, increased total serum protein and serum creatinine levels. Infection is the commonest cause of death.

Pathology (12 decks)

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