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year 5 path > haematology - inherited haemolytic anaemias > Flashcards

haematology - inherited haemolytic anaemias Flashcards

1
Q

inherited haemolytic anaemia membrane defects

A

hereditary spherocytosis
hereditary elliptocytosis
hereditary pyropoikilocytosis

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2
Q

pattern of inheritance of hereditary spherocytosis

A

autosomal dominant

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3
Q

hereditary spherocytosis deficiencies

A

membrane proteins

  • spectrin
  • ankyrin
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4
Q

hereditary spherocytosis is intra or extravascular?

A

extravascular

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5
Q

hereditary spherocytosis makes patients susceptible to

A

parvovirus B19

gallstones

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6
Q

hereditary elliptocytosis

A

autosomal dominant spectrin mutation leading to elliptical erythrocytes

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7
Q

hereditary pyropoikilocytosis

A

autosomal recessive

erythrocytes abnormally sensitive to heat

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8
Q

severity of hereditary elliptocytosis

A

ranges from hydrops foetal is to asymptomatic

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9
Q

inherited haemolytic anémia enzyme defects

A

G6PD deficiency

pyruvate kinase deficiency

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10
Q

role of G6PD

A

helps RBCs make glutathione for protection against oxidant damage

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11
Q

G6PD deficiency pattern of inheritance

A

X linked recessive

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12
Q

G6PD features which type of haemolysis

A

intravascular

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13
Q

features G6PD deficiency crisis

A 
rapid anaemia
jaundice
dark urine
bite cells
Heinz bodies
(blue deposits, oxidised Hb)
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14
Q

G6PD deficiency crisis triggers

A 
oxidants
drugs (2-3 days after starting)
broad beans (<1 day of eating)
acute stressors
moth balls
acute infection
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15
Q

drugs that may trigger G6PD deficiency crisis

A

primaquine
sulfonamides
aspirin

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16
Q

dx of G6PD deficiency made by

A

enzyme assay 2-3 months after crisis

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17
Q

take caution in G6PD enzyme assay because

A

young RBCs may have sufficient enzyme so results may appear normal

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18
Q

treatment of G6PD deficiency

A

avoid precipitants
transfusion if sever
genetic screening
splenectomy for chronic haemolysis

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19
Q

pyruvate kinase deficiency pattern of inheritance

A

autosomal recessive

autosomal dominant has been observed

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20
Q

features of pyruvate kinase deficiency

A

sever neonatal jaundice
splenomegaly
haemolytic anaemia

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21
Q

treatment of pyruvate kinase deficiency

A

most not required

blood transfusion
splenectomy

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22
Q

globin pairs and resulting type of haemoglobin

A

2 alpha + 2 beta = HbA
2 al[pha + 2 gamma = HbA2
2 alpha + 2 delta = HbF

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23
Q

SCD affects which type of globin

A

beta globin gene

24
Q

alpha thalassaemia/HbH disease mutation

A

deletion of alpha globin gene

25
Q

beta thalassaemia affects which type of globin

A

beta globin gene

26
Q

sickle cell disease

A

pathological sickling of RBCs

27
Q

SCD pattern of inheritance

A

autosomal recessive

28
Q

sickle cell anaemia vs sickle cell trait

A

anaemia - HbSS severe

trait - usually asymptomatic except under stress

29
Q

mutation causing sickle cell

A 
single base mutation
GAG -> GTG
glu -> val 
at codon 6 of beta chain
= HbS
30
Q

sickle haemoglobin C disease

A

HbSC

HbC = defective beta chain

31
Q

sickle beta thalassaemia

A

HbS/beta thalassaemia trait

32
Q

age of onset of sickle cell anaemia

A

manifests at 3-6 months

coincides with decreasing HbF

33
Q

features of sickle cell haemolysis

A 
anaemia 60-80g/L
splenomegaly
folate deficiency
gallstones
aplastic crises
34
Q

features of sickle cell vaso-occlusion and infarction

SICKLED

A 
stroke
infections (hyposplenism, CKD)
crises (splenic, sequestration, chest and pain)
kidney (papillary necrosis, nephrotic)
liver (gallstones)
eyes (retinopathy)
dactilitis (impaired growth)
mesenteric ischaemia
priapism (long lasting painful erection)
35
Q

sickle cell features onset in children

A

strokes
splenomegaly
splenic crises
dactylitis

36
Q

sickle cell features onset in teenagers

A

impaired growth
gallstones
psych
priapism

37
Q

sickle cell features onset in acdults

A

hyposplenism
CKD
retinopathy
pulmonary hypertension

38
Q

dx of SCD

A

blood film - sickle and target cells
sickle solubility test
Hb electrophoresis
Guthrie test at birth

39
Q

purpose of Guthrie test

A

performed at birth if SCD suspected to prompt pneumococcal prophylaxis

40
Q

treatment of acute SCD crisis

A

opioid analgesia

blood exchange transfusion

41
Q

top up transfusions in SCD crisis

A

can increase sickling

only use if Hb <60g/L

42
Q

maintenance treatment of SCD

A

penicillin V
pneumovax
HIB vaccine

folic acid & hydroxycarbamide
regular exchange transfusions
carotid doppler monitoring with prophylactic exchange if turbulent

43
Q

other treatment options for

A

crizanlizumab

allogeneic stem cell transplant

44
Q

thalassaemia

A

unbalanced Hb synthesis
unmatched globins
haemolysis and ineffective erythropoeisis

45
Q

beta thalassaemia

A

point mutations ↓ beta chain synthesis
excess alpha chains

↑ HbA2 and HbF

46
Q

features of beta thalassaemia

A

skull bossing
maxillary hypertrophy
hairs on end skull XR
hepatosplenomegaly

47
Q

B0 =
B+ =
B =

A

no expression of gene
some expression of gene
normal gene

48
Q

beta thalassaemia minor

A

B+/B+ or B0/+
asymptomatic carrier
mild anaemia

49
Q

beta thalassaemia intermedia

A 
B+/B or B0/B
moderate anaemia
splenomegaly
bony deformity
gallstones
50
Q

beta thalassaemia major

A 
B0/B0
severe anaemia
FTT
hepatosplenomegaly (extramedullary erythropoiesis)
bony deformity
heart failure
51
Q

dx of beta thalassaemia

A

Hb electrophoresis

Guthrie test at birth

52
Q

treatment of beta thalassaemia

A

blood transfusions with iron chelation (prevent iron overload)
folic acid

minor/some intermedia may not need regular treatment

53
Q

alpha thalassaemia

A

deletions causing:
↓ alpha chain synthesis
excess beta chains

54
Q

alpha thalassaemia trait

A

1-2 deleted alpha chains
asymptomatic
mild anaemia

55
Q

HbH disease

A

3 deleted alpha chains
moderate anaemia
splenomegaly

56
Q

hydrops foetalis

A

4 deleted alpha chains

incompatible with life

year 5 path (16 decks)

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