Blood cell abnormalities Flashcards

1
Q

What is anaemia?

A

Anaemia concerns the reduction in the amount of haemoglobin present in a given volume of blood, below the expected range in comparison to a healthy adult of same age & gender

Reduction and absolute deficiency of haemoglobin in circulation

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2
Q

What parameters does anaemia reduce?

A

Red blood cell count

HCT/PCV (Hematocrit)

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3
Q

What is the primary cause of anaemia in a healthy individual?

A

Increased plasma volume

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4
Q

What are the mechanisms of anaemia?

A

Reduced production of erythrocyte/haemoglobin in the bone marrow
Removal of blood
Reduced lifespan of circulating erythrocytes
Pooling of erythrocytes in spleen (Splenomegaly)
Iron deficiency, reduced synthesis of haem/globin

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5
Q

What is thalassemia?

A

An inherited genetic condition resulting in reduced globin synthesis, resulting in malformed erythrocytes

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6
Q

What type of microcytic anaemia is common?

A

Hypochromia

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7
Q

What is hypochromia?

A

Low mean corpuscular hemoglobin concentration (MCHC), haemoglobin content within an individual cell is reduced

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8
Q

What are the two examples of hypochromic erythrocytes?

A

Target cells

Elliptocytes

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9
Q

What is microcytic anaemia?

A

Hypochromic, relatively smaller erythrocyte; larger area of central pallor as a result of reduced haemoglobin content. Concerns a reduction in erythrocyte count, cells have reduced size

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10
Q

What are the causes of microcytic anaemia (3)?

A

Iron deficiency (haemoglobin synthesis is reduced, ferrous iron is required for haem group) insufficient ferritin
Anaemia of chronic disease
Thalassemia

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11
Q

An insufficiency of what molecule contributes towards microcytic anemia?

A

Ferritin

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12
Q

Why does ferritin insufficiency contribute towards microcytic anaemia?

A

Ferritin insufficiency causes reduced iron storage capacity

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13
Q

What is thalassemia?

A

Defect in alpha and beta chain synthesis (Dysfunctional and malformed RBCs are haemolysed)

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14
Q

What are the causes of iron deficiency?

A

Hookworm infection (primary cause)
Menorrhagia
Insufficient intake- Vegans, coeliac disease (Malabsorption)
Increased requirements: Physiological (pregnancy)

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15
Q

Why does Hookwork infection cause iron deficiency?

A

Adult hookworms rupture erythrocytes through ingestion of blood, contributing towards hemoglobin degradation

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16
Q

Why does menorrhagia cause iron deficiency?

A

Reduces the number of circulating RBCs, thereby hemoglobin concentration and content declines, iron deficiency is attributed towards the increased synthesis of haemoglobin since hemosiderin and ferritin is used to combat blood loss = DEPLETES iron storage molecules = iron levels decline

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17
Q

What are the two types of iron storage molecules?

A

Hemosiderin and ferritin

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18
Q

What are the signs and symptoms of iron deficiency?

A

Pale skin

Weakness & fatigue

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19
Q

What is the primary female risk factor for iron deficiency?

A

Heavy menstrual periods

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20
Q

Which two diets contribute to iron deficiency?

A

Vegan & Vegetarian

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21
Q

Why does coeliac disease cause iron deficiency?

A

Gluten-induced enteropathy
Gluten-derived peptides bind to HLA-DQ2 molecules (Intestinal CD4 T cells); causes a cytotoxic response, damages enterocytes and reduces absorption ability

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22
Q

Which bacteria cause chronic malabsorption?

A

H pyloric gastritis

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23
Q

How does H pyloric gastritis cause malabsorption?

A

Mucinase enzymes secreted, hydrolyzes mucosal epithelium.

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24
Q

What is macrocytic anemia?

A

Concerns that of which the average erythrocyte size has increased.
Macrocytic anaemia result from abnormal hemopoiesis whereby red cell precursors (reticulocytes and proerythroblasts) continue to synthesise haemoglobin and cellular proteins, however aberrantly deivide. Red cells result in larger morphology

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25
Q

What is the main cause of macrocytic anaemia?

A

Megaloblastic erythropoiesis

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26
Q

What is megaloblastic erythropoiesis?

A

Delayed maturation of the nucleus whilst the cytoplasm continues to grow and mature (nucleocytoplasmic dissociation).
Defect in DNA synthesis interferes with cellular prolifeation and maturation

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27
Q

What causes megaloblast anaemia?

A

Abnormal none marrow erythroblast
B12 or foalte deficiency, inhibition of homocysteine conversion to methionine.
Liver disease and ethanol toxicity
Blood loss
Haemolytic anaemia (reticulocytes increased)

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28
Q

Which anaemia concerns the deficiency in erythrocytes, presence of normal-sized RBCs?

A

Normocytic

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29
Q

What are the mechanisms of normocytic anaemia?

A

Recent blood loss
Failure of erythrocyte production
Splenic sequestration -Hypersplenism in liver cirrhosis, and SCA

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30
Q

What is polycythemia?

A

Abnormally increased concentration of haemoglobin in blood, either through reduced plasma volume or increase in circulating erythrocyte number

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31
Q

What RBC parameters increase during polycythemia?

A

Red blood cell count

Haematocrit

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32
Q

What is pseudo polycythemia?

A

Reduced plasma volume

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33
Q

What is true polycythemia?

A

Increase in total volume of red blood cells in circulation

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34
Q

What are the causations of polycythemia (4)?

A

1) Blood doping/ over transfusion
2) Appropriately increased erythropoietin
3) Inappropriate erythropoietin synthesis or use
4) Independent of erythropoietin

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35
Q

What is appropriately increased ept?

A

Appropriate to physiological needs of individuals (hypoxia, high altitudes).

36
Q

What is a physical indication of hypoxia?

A

Cyanosis

37
Q

What is Inappropriate erythropoietin synthesis or use

A

Polycythaemia from an erythripoietin-secreting renal tumour

38
Q

Which variation of polycythemia is independent of ept?

A

Polycytemia vera

39
Q

What is polycythemia vera?

A

Intrinsic bone marrow disorder
Classified as a myeloproliferative neoplasm.
Mutation in HSC.

40
Q

What pathologies can polycythemia vera contribute towards?

A

Hyperviscosity, vascular obstruction

41
Q

How can hyperviscosity attribute to polycythemia be treated?

A

Venesection (removal of blood) + drugs to reduce bone marrow production

42
Q

What is leukaemia?

A

Neoplasm or cancer arising as a result of a mutation in a precursor of myeloid or lymphoid cells. The proliferation of these precursors
Myeloid includes precursors of granulocyte, monocyte and erythroid lineages

43
Q

Which types of mutations causes the clonal expansion of myeloid/lymphoid precursors?

A

Proto-oncogenes

Inhibition of tumor suppressor genes

44
Q

What are causes of oncogene mutations?

A
Point mutations; 
internal tandem duplications of genes, 
Fusion of genes
Dyregulation (gene comes under control or promoter or enhance of another gene)
Somatic hypermutation upon translocation
45
Q

What is the hallmark of leukemia?

A

Growth without dependence on growth factors continued proliferation without maturation.
Resists apoptosis and cell death

46
Q

What are the two main types of leukemia?

A

Acute

Chronic

47
Q

What is acute leukemia?

A

Characteristically sudden, progresses rapidly

Immature cells, immediate pathological effect

48
Q

What is chronic leukemia?

A

Comparatively less impairment of the function of normal tissues eventually leads to death, has prolonged effect

49
Q

What are the 3 lineages of lymphoid leukemia?

A

NK, B and T cell

50
Q

What are the 4 lineages of myeloid leukemia?

A

Granulocytic, monocytic, erythroid and megakaryocytic

51
Q

What are the four main categories of leukemia (2 chronic and 2 acute)?

A

Acute lymphoblastic leukemia (ALL)
Acute myeloid leukemia
Chronic lymphocytic leukemia
Chronic myeloid leukemia

52
Q

What are the 5 mutations that cause leukemia?

A
Protooncogenes
Chimeric fusion genes
Loss of function genes
Dysregulation  when translocation brings it under the influence of a promoter/enhancer
Chromosomal breaks
53
Q

What are the 4 causes of leukemogenic mutations?

A

Irradiation
Anit-cancer drugs
Cigarette smoking
Chemical agents

54
Q

Why does Benzene influence leukemia?

A

Benzene metabolites and intermediaries result in bone marrow suppression.

55
Q

What type of disease is leukemia?

A

Acquired genetic disease resulting from somatic mutation

56
Q

What type of cell accumulates within the bone marrow and circulation for acute leukemia?

A

Myeloblasts

Continued proliferation but unable to undergo maturation

57
Q

What failure is caused by acute leukemia?

A

Failure of production of normal functioning end cells. Including neutrophils, monocytes, eyrhthrocytes and platelets

58
Q

Which type of mutation confers for acute myeloid leukemia?

A

Transcription factors, transcription of multiple genes affected. Product of oncogene prevents the normal function of the protein encoded by its normal homologu

59
Q

Which type of mutation confers for chronic myeloid leukemia?

A

Affects genes encoding a protein in the signaling pathway between a cell surface receptor and the nucleus
Protein encoded membrane receptor or cytoplasmic protein

60
Q

What are the cellular functional difference between CML and AML?

A

Cell kinetics and function not significantly affected in comparison to AML

61
Q

Why do the myeloid cells have a long-circulating lifespan (CML)?

A

Independent of external signals, alterations in the interaction with stroma, reduced apoptosis,

62
Q

What is the main difference between AML and CML?

A

AML failure production of end cells

CML increased production of end cells

63
Q

What is acute lymphoblastic leukemia?

A

Has an increase in lymphoblasts (Immature lymphoid cells), with the inhibition to develop into mature lymphocytes

64
Q

What is chronic lymphoid leukemia?

A

The leukemic cells are mature, however abnormal t,b, NK cells

65
Q

What are the pathophysiologies of leukemia concerned with abnormal cells?

A

Leucocytosis,
Bone pain (acute)
Hepatomegaly, splenomegaly
Lymphadenopathy (lymphoid), thymic enlargement (t LYMPHOID)

66
Q

What pathophysiologies are concerned with lack of production of normal cells?

A

Anaemia
Leukopenia
Thrombocytopenia.

67
Q

What type of mutation is primary for CML?

A

A reciprocal translocation between chromosome 9 and 22

68
Q

What is the chimeric gene formed from the 9-22 reciprocal translocation in CML?

A

BCR-ABL1

69
Q

What is a reciprocal translocation?

A

Occurs between non-homologous chromosome segments of a chromatid, rearrange and rejoint to another chromosome.

70
Q

What is the effect of the BCR-ABL1 gene?

A

Provides survival advantage and cell growth = leukemic clone.
It contains molecular instruction, elevates tyrosine kinase proteins, intracellular signaling via transcription factors and secondary messengers in the cell cycle. Uncontrolled proliferation

71
Q

What types of cells increase during CML?

A

Basophils, neutrophils, eosinophils and their precursors

Anaemia

72
Q

What is splenomegaly and why does it occur?

A

Enlarged spleen and increased hemolysis of aberrant erythrocytes.

73
Q

What is the treatment of CML?

A

Tyrosine kinase inhibitors, leading to remission and potentially cure of disease

74
Q

What are the clinical features of ALL?

A
Fatigue
Lethargy
Pallor (Anaemia)
Bruising (Thrombocytopenia)
Petechiae
Bone pain
Abdominal enlargement
75
Q

What do chest radiographs depict for ALL?

A

Thymus enlargement

76
Q

What does an abdominal imaging show?

A

Hepatomegaly and gross renal enlargement

77
Q

What are the pathological effects of clonal expansion in ALL?

A
leucocytosis with lymphoblasts in blood
Anaemia
Thrombocytopenia
Neutropenia
Lymphadenopathy
Hepatomegaly, splenomegaly and thymus enlargement
78
Q

What are the benefits of cytogenic molecular analysis?

A

Provides information to the individual patient regarding progression or susceptibility of LEUKEMIA, PROGNOSIS

79
Q

What is hyperdiploidy?

A

Additional chromosomal copies - good prognosis

80
Q

What is a poor prognosis?

A

Robertsonian translocation between chromosomes

81
Q

What are the 4 principles of treatment?

A

Blood products
Systemic chemotherapy
Intrathecal chemotherapy
Bone marrow transplantation

82
Q

When is a bone marrow transplantation needed?

A

For a poor prognosis of leukemia

83
Q

What is blood product treatment?

A

Supply of rbc and platelet to correct the effect of bone marrow failure
Antibiotics administered

84
Q

Why is a supportive therapy of antibiotics administered for leukemia?

A

To compensate for the presented infection risk due to neutropenia

85
Q

What is systemic chemotherapy?

A

targeted killing of leukemia clones permits normal cells to regenerate

86
Q

What is intrathecal chemotherapy?

A

Destroys small number of leukemic cells in CSF.
Untreated will lead to relapse
High doses bass BBB into CSF