Diseases of Blood Cells Flashcards

1
Q

What are haematological malignancies?

A

Main types of cancers affecting blood, bone marrow and lymph nodes. They are subdivided according to which type of blood cell is affected

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2
Q

What are the 2 types of progenitors that are affected?

A

Lymphoid or myeloid

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3
Q

Malignancies are also classified according to their location. What are these classifications?

A

Leukaemia - blood

Lymphoma - lymph nodes

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4
Q

What is neoplasia?

A

Uncontrolled cell growth

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5
Q

What are the 2 classes of genes implicated in neoplasia?

A

Oncogenes and tumour suppressor genes

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6
Q

What are oncogenes?

A

Normal genes, which usually produce factors that regulate cell function (growth factors, their receptors, DNA binding proteins), become mutated and form oncogenes.

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7
Q

What is danger of oncogenes?

A

Directly causative of cancer

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8
Q

How can implications of tumour suppressor genes cause cancer?

A

Loss of suppressor activity can lead to cancer

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9
Q

What are point mutations caused by?

A

UV, radiation, carcinogens

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10
Q

What are myeloid malignancies?

A

Heterogenous disorders characterised by uncontrolled proliferation and/or blockage of differentiation of abnormal myeloid progenitor cells

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11
Q

What is polycythaemia caused by?

A

Increased RBCs

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12
Q

What is thrombocythaemia caused by?

A

Increased platelets

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13
Q

What is myelofibrosis caused by?

A

Increased megakaryocytes

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14
Q

What is chronic myeloid leukaemia caused by?

A

Affects white blood cells

Increased granulocytes due to translocation of Philadelphia chromosome

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15
Q

What does this translocation of the Philadelphia chromosome result in?

A

Produces an enzyme that you cannot switch - uncontrolled cell division as enzyme drives cell cycle

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16
Q

What is leukaemia caused by?

A

Accumulation of WBCs in bone marrow and blood which affects other cells

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17
Q

What does this increase of WBCs cause?

A

Decrease of RBC and platelet production

  • Oxygen carrying ability reduced
  • Clotting ability reduced

Eventually leads to bone marrow failure

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18
Q

What happens to WBCs during bone marrow failure?

A

Drop in production of WBCs

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19
Q

Why is blood initially very viscous (hyper viscosity)?

A

Initial increase of WBCs causes respiratory or neurological symptoms

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20
Q

What does this drop in WBCs, RBCs and platelets then cause?

A

Decreased immunity - prone to infection
Tiredness/anaemia - not producing enough RBCs
Bleeding - lack of platelets

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21
Q

What is the most common of the blood cancers?

A

Lymphoma

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22
Q

What is lymphoma caused by?

A

Production of too many T or B cells (T or B lymphocyte neoplasia)

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23
Q

What are the 2 types of lymphoma? What is the difference?

A

Hodgkin or Non-Hodgkin

Non-Hodgkin lymphoma may arise in lymph nodes anywhere in the body, whereas Hodgkin lymphoma typically begins in the upper body, such as the neck, chest or armpits.

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24
Q

What is Non-Hodgkin directly linked to?

A

Epstein-Barr virus (‘mono’)

25
Q

What is Hodgkin lymphoma characterised by? Why is it considered one of the most treatable cancers?

A

Reed-Sternberg cells

Hodgkin lymphoma is often diagnosed at an early stage and is therefore considered one of the most treatable cancers.

26
Q

What are Reed-Sternberg cells? Where do they originate from?

A

Distinctive, giant cells found with light microscopy in biopsies from individuals with Hodgkin lymphoma

Usually derived from B lymphocytes - become enlarged and are multinucleate or have a bilobed nucleus

27
Q

What is anaemia?

A

Lack of Hb/RBCs

28
Q

What must Hb levels drop below for men and women to classed as anaemia?

A

Below 13.5 g/dL for men

Below 11.2 g/dL for women

29
Q

What are 2 main causes of anaemia?

A
  1. Abnormalities in RBC/Hb production

2. RBC destruction

30
Q

Blood loss can lead to normocytic anaemia. What is this?

A

No abnormalities in RBC production or morphology but just enough to carry oxygen to tissues

31
Q

What is chronic erythrocyte loss?

A

Blood loss causes anaemia when the volume of blood lost exceeds the capability for haematopoiesis of the bone marrow e.g. bleeding peptic ulcer

32
Q

What is erythropoietin?

A

Growth factor that drives production of RBCs

33
Q

What is thrombopoietin?

A

Growth factor that drives production of platelets

34
Q

What do the kidneys do when they sense hypoxia?

A

Release erythropoietin into the blood which goes to the bone marrow

35
Q

What does erythropoietin induce bone marrow to produce?

A

More RBCs which feeds back to the kidneys and switches off erythropoietin production

36
Q

What can renal disease lead to?

A

Anaemia - erythropoietin production is affected

37
Q

What is the most common cause of anaemia?

A

Iron deficiency

38
Q

What does lack of iron lead to?

A

Hypochromic (less Hb) microcytic anaemia

39
Q

What are characteristics of RBCs in microcytic anaemia?

A

Pale (increased zone of central pallor) and smaller than normal

40
Q

What is iron deficiency caused by?

A

Diet, blood loss, infection (hookworm), growth spurts, pregnancy

41
Q

How can Vitamin B12 and folate deficiency lead to anaemia?

A

Both involved in DNA replication - causes problems with mitosis (cell division) of the pro erythroblast

42
Q

What type anaemia does vitamin B12 and folate deficiency lead to?

A

Megoblastic or macrocytic anaemia

Lack of vitamin B12 or folate causes the body to produce abnormally large red blood cells that cannot function properly.

43
Q

What are characteristics of RBCs in megoblastic/macrocytic anaemia?

A

Larger than normal RBCs

Hypersegmented neutrophils

44
Q

What is haemolytic anaemia caused by?

A

RBC destruction (bone marrow unable to replace quickly enough) - RBC lifespan down from 120 to sometimes 20 days

45
Q

What are the 2 different types of haemolytic anaemia?

A

Acquired and inherited

46
Q

What are the 3 different types of inherited anaemias?

A

Virtually all inherited anaemia’s are haemolytic

  1. RBC cytoskeletal defects
  2. RBC enzyme defects
  3. Hb defects
47
Q

How does RBC cytoskeletal defects lead to haemolytic anaemia?

A

Mutations in alpha or beta spectrin - hereditary spherocytosis (can’t fit through capillaries)

48
Q

How do RBC enzyme defects cause haemolytic anaemia?

A

RBCs only use glycolysis to produce energy. G6PD deficiency - involved in NADPH metabolism. These cells become oxidatively damaged easily

49
Q

What diseases are caused by Hb defects?

A

Thalassaemia and Sickle Cell Anaemia

50
Q

Which acquired anaemias are linked to the immune system?

A
  1. Haemolytic syndrome in newborns (Rh)
  2. Autoantibodies (antibodies against own RBCs which bind to proteins on surface of cell and lead to haemolysis)
  3. Complement activation labels RBCs wrongly - causes phagocytosis or attack by macrophages
51
Q

Which acquired anaemias are not linked to immune system?

A
  1. Drug induced (drug binds to surface of RBC which causes immune reaction)
  2. Snake venom
  3. Mechanical (heart valves)
  4. Infections (malaria, septicaemia)
52
Q

What is Sickle Cell Disease caused by?

A

Point mutation in Hb beta global gene, position 6 (Glu –> Val). Causes polymerisation of Hb and distorting of RBC

53
Q

Why is sickle cell anaemia and thalassaemia relatively common in Asia and Africa?

A

Heterozygosity confers protection against malaria

54
Q

What is effect of Sickle Cell Anaemia?

A

‘Sickling’ or RBCs as protein folds incorrectly. Sickle cell crisis due to blockage of microvasculature (blood vessels). Sticky due to rigid shape

55
Q

What is thalassaemia?

A

Form of microcytic anaemia

Defects in either alpha or beta chains of Hb leading to ineffective erythropoiesis and haemolysis

56
Q

In what form can thalassaemia provide protection against malaria?

A

Heterozygous (mild)

57
Q

Difference between alpha and beta thalassaemia?

A

Alpha - large deletions of alpha-globin

Beta - point mutation in beta global gene

58
Q

What is myelofibrosis?

A

An uncommon type of bone marrow cancer that disrupts your body’s normal production of blood cells.

Myelofibrosis causes extensive scarring in your bone marrow, leading to severe anemia that can cause weakness and fatigue

59
Q

What is a G6PD deficiency? How can it affect RBCs?

A

G6PD deficiency is a genetic disorder that most often affects males. It happens when the body doesn’t have enough of an enzyme called glucose-6-phosphate dehydrogenase (G6PD). G6PD helps red blood cells work. It also protects them from substances in the blood that could harm them.