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Anaemia Flashcards

1
Q

Anaemia definition

A

reduction of total circulating red cell mass below normal limits - reduces oxygen carrying capacity of blood

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2
Q

reduced oxygen carrying capacity of blood could lead to

A

tissue hypoxia

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3
Q

etiological clues to anaemia (3)

A

red cell size, shape, degree of haemoglobinisation

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4
Q

3 red cell sizes

A

normocytic, microcytic, macrocytic

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5
Q

2 degrees of haemoglobinisation

A

normochromic, hypochromic

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6
Q

microcytic and hypochromic anaemia suggest

A

haemoglobin synthesis disorder

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7
Q

macrocytic anaemia suggests

A

maturation in bone marrow abnormalities

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8
Q

leg ulcers suggest

A

sickle cell anaemia

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9
Q

bone deformities suggest

A

thalassaemia major

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10
Q

jaundice suggests

A

haemolytic anaemia

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11
Q

koilonychia (spoon-shaped nails) suggests

A

iron deficiency anaemia

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12
Q

3 features of haemolytic anaemias

A

premature destruction and short life span RBCs, accumulation of breakdown material, elevated erythropoietin and rate of erythropoiesis

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13
Q

cause of extravascular haemolytic anaemia

A

alterations which make RBCs less deformable

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14
Q

causes of intravascular haemolytic anaemia (4)

A

mechanical injury, complement fixation, intracellular parasites, exogenous toxic factors

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15
Q

3 signs of extravascular haemolytic anaemia

A

anaemia, splenomegaly, jaundice (bilirubin)

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16
Q

3 signs of intravascular haemolytic anaemia

A

anaemia, jaundice (bilirubin), haemoglobinaemia

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17
Q

process extravascular haemolytic anaemia

A

can’t navigate splenic pulp > red cell sequestration > phagocytosis within cords > some escapes

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18
Q

process intravascular haemolytic anaemia

A

large amount Hb free from lysed cells > bound to HAPTOglobin > rapidly cleared by phagocytes > Hb oxidised to METHEMOglobin (brown) > some passes in urine

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19
Q

Jaundice is from

A

iron build up in kidney > bilirubin

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20
Q

genetics of sickle cell disease

A

maturation in 6th codon of beta globin > replacement of glutamate residue with valine residue

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21
Q

in sickle cell disease, glutamate residue is replace with

A

valine residue

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22
Q

haemoglobin type of sickle cell sufferers

A

HbS

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23
Q

HbS heterozygous phenotype

A

sickle cell trait

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24
Q

sickle cell trait protects against

A

malaria

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25
sickle cell trait symptoms
asymptomatic
26
sickle cell disease and trait most common in people of what descent
african
27
3 major pathological manifestations of sickle cell anaemia
chronic haemolysis, microvascular occlusions, tissue damage
28
4 variables affecting sickling
interaction of HbS with other types of Hb in cell, mean cell Hb concentration, transit time of red cells through microvascular beds, intracellular pH
29
sickle cell trait, percentage HbS and HbA
HbS = 40%, HbA = 60%
30
HbA interferes with
HbS polymerisation
31
RBCs of people with sickle cell TRAIT do not sickle unless under what conditions
hypoxic conditions
32
intracellular what facilitates sickling
dehydration
33
intracellular dehydration facilitates sickling because
increases mean cell Hb conc.
34
transit times slow where (3)
spleen, bone marrow, inflamed vascular beds
35
why might vascular beds be inflamed
increased adhesion molecules
36
sickle red cells express higher than normal amounts of what
adhesion molecules
37
decrease in pH reduced Hb affinity for what
oxygen
38
reduced Hb oxygen affinity increases fraction of
deoxygenated HbS
39
low pH increases tendency of
sickling
40
sickle cell disease, splenomegaly can be seen in
children
41
autosplenectomy seen in
adults with sickle cell disease
42
progressive hypoxic tissue damage leads to
autosplenectomy
43
how does sickling damage RBCs
HbS polymers grow > herniate membrane > influx calcium ions into RBC > efflux potassium ions and water > dehydration > increased density and rigidity
44
sickle cell - damage to RBCs - influx of
calcium ions
45
sickle cell - damage to RBCs - efflux of
potassium ions and water
46
sickle cell is a form of what type of anaemia
haemolytic
47
vaso-occlusive crises
episodes of infarction causing sever pain in affected region
48
vaso-occlusive crises common in what tissue
bone
49
chronic hypoxia in sickle cell responsible for
impaired growth and development
50
sickle cell prognosis improved by (4)
DNA synthesis inhibitor drugs, bone marrow transplants, prophylactic antibiotics, blood transfusions
51
HbA has which 4 chains
2 alpha, 2 beta
52
HbA alpha chains genes on chromosome
16
53
HbA beta gene on chromosome
11
54
thalassaemia consequences are from
Hb deficiency and excess of other globin chain
55
thalassaemia CARRIERS are protected against
Malaria
56
how many HbA alpha chain genes
2
57
how many HbA beta chain genes
1
58
two categories of beta thalassaemias
beta 0 and beta positive
59
beta zero thalassaemia mutations associated with
absent beta globin synthesis
60
beta positive thalassaemia mutations associated with
reduced beta globin synthesis
61
most common cause of beta positive thalassaemia
splicing mutations
62
most common cause of beta zero thalassaemia
chain terminator mutations
63
mutations associated with beta positive thalassaemia
promotor region mutations (and splicing mutations)
64
beta thalassaemia is (2)
hypochromic, microcytic
65
two beta thalassaemia alleles
beta thalassaemia major
66
one beta thalassaemia allele
beta thalassaemia minor
67
beta thalassaemia minor is (2)
asymptomatic, microcytic
68
beta thalassaemia major manifests when
6-9 months after birth (hbF-->HbA)
69
major red cell Hb in beta thalassaemia major
HbF
70
blood transfusion needed or death as child in
beta thalassaemia major
71
bony prominences enlarged and distorted in
beta thalassaemia major
72
only cure for beta thalassaemia major is
bone marrow transplant
73
in newborns with alpha thalassaemia (hydrops fetalis), excess unpaired gamma globin chains form gamma 4 tetramers known as
haemoglobin barts
74
in order children and adults with alpha thalassaemia, excess beta globin chains form beta 4 tetramers known as
HbH
75
haemolysis and ineffective erythropoiesis less severe than
beta thalassaemia
76
most common cause of reduced alpha chain synthesis and therefore alpha thalassaemia
gene deletion
77
silent carrier state alpha thalassaemia
deletion of single alpha globin gene allele
78
symptoms of silent carrier state alpha thalassaemia
asymptomatic
79
silent carrier state alpha thalassaemia cell type
microcytic (slight)
80
deletion of two alpha globin gene alleles
alpha thalassaemia trait
81
deletion of two alpha globin gene alleles from single chromosome
asian
82
deletion of two alpha globin gene alleles from two different chromosomes
african
83
alpha thalassaemia trait cell type
microcytic
84
symptoms of alpha thalassaemia trait
asymptomatic
85
deletion of 3 alpha globin gene alleles
haemoglobin H disease (HbH disease)
86
HbH disease most common in which populations
asian
87
in HbH tetramers of what form
beta globin
88
HbH has what kind of affinity for oxygen
very high
89
deletion of all four alpha globin gene alleles
hydrops fetalis
90
barts have what type of affinity for oxygen
very high
91
hydrops fetalis have life long dependency on
blood transfusion
92
only possible cure for hydrops fetalis
bone marrow transplant
93
vitamin B12 deficiency anaemia is what type of anaemia (2)
megaloblastic, macrocytic
94
pernicious anaemia
vitamin B12 deficiency anaemia resulting from inadequate gastric production / defective function of INTRINSIC FACTOR
95
most common cause of vitamin B12 deficiency anaemia
long-standing malabsorption
96
3 types of antibody found in pernicious anaemia
parietal canalicular, blocking, binding antibodies
97
spinal cord disease associated with which anaemia
vitamin B12 deficiency anaemia
98
treatment for vitamin B12 deficiency anaemia
hydroxycobalamin (vitamin B12)
99
median age of diagnosis of pernicious anaemia
60
100
folate deficiency anaemia very similar to vitamin B12 deficiency anaemia other than
no neurological abnormalities
101
treatment for folate deficiency anaemia
oral folic acid
102
most common cause of anaemia worldwide
iron deficiency anaemia
103
percentage of world affected by iron deficiency anaemia
30%
104
most common cause iron deficiency anaemia (developed world)
blood loss
105
most common cause iron deficiency anaemia (developing world)
nutritional deficiencies
106
iron absorbed where
duodenum
107
cell type in iron deficiency anaemia (2)
microcytic, hypochromic
108
long standing anaemia leads to
spooning of fingernails
109
conditions carrying increased likelihood of iron deficiency (4)
pregnancy, adolescence, periods of rapid growth, intermittent history of blood loss

Sem 2 (11 decks)

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