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Year 5 path > haematology - inherited haemolytic anaemias > Flashcards

haematology - inherited haemolytic anaemias Flashcards

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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

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A

beta globin gene

24
Q

alpha thalassaemia/HbH disease mutation

Study These Flashcards
A

deletion of alpha globin gene

25
beta thalassaemia affects which type of globin
beta globin gene
26
sickle cell disease
pathological sickling of RBCs
27
SCD pattern of inheritance
autosomal recessive
28
sickle cell anaemia vs sickle cell trait
anaemia - HbSS severe | trait - usually asymptomatic except under stress
29
mutation causing sickle cell
``` single base mutation GAG -> GTG glu -> val at codon 6 of beta chain = HbS ```
30
sickle haemoglobin C disease
HbSC | HbC = defective beta chain
31
sickle beta thalassaemia
HbS/beta thalassaemia trait
32
age of onset of sickle cell anaemia
manifests at 3-6 months | coincides with decreasing HbF
33
features of sickle cell haemolysis
``` anaemia 60-80g/L splenomegaly folate deficiency gallstones aplastic crises ```
34
features of sickle cell vaso-occlusion and infarction | SICKLED
``` 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
sickle cell features onset in children
strokes splenomegaly splenic crises dactylitis
36
sickle cell features onset in teenagers
impaired growth gallstones psych priapism
37
sickle cell features onset in acdults
hyposplenism CKD retinopathy pulmonary hypertension
38
dx of SCD
blood film - sickle and target cells sickle solubility test Hb electrophoresis Guthrie test at birth
39
purpose of Guthrie test
performed at birth if SCD suspected to prompt pneumococcal prophylaxis
40
treatment of acute SCD crisis
opioid analgesia | blood exchange transfusion
41
top up transfusions in SCD crisis
can increase sickling | only use if Hb <60g/L
42
maintenance treatment of SCD
penicillin V pneumovax HIB vaccine folic acid & hydroxycarbamide regular exchange transfusions carotid doppler monitoring with prophylactic exchange if turbulent
43
other treatment options for
crizanlizumab | allogeneic stem cell transplant
44
thalassaemia
unbalanced Hb synthesis unmatched globins haemolysis and ineffective erythropoeisis
45
beta thalassaemia
point mutations ↓ beta chain synthesis excess alpha chains ↑ HbA2 and HbF
46
features of beta thalassaemia
skull bossing maxillary hypertrophy hairs on end skull XR hepatosplenomegaly
47
B0 = B+ = B =
no expression of gene some expression of gene normal gene
48
beta thalassaemia minor
B+/B+ or B0/+ asymptomatic carrier mild anaemia
49
beta thalassaemia intermedia
``` B+/B or B0/B moderate anaemia splenomegaly bony deformity gallstones ```
50
beta thalassaemia major
``` B0/B0 severe anaemia FTT hepatosplenomegaly (extramedullary erythropoiesis) bony deformity heart failure ```
51
dx of beta thalassaemia
Hb electrophoresis | Guthrie test at birth
52
treatment of beta thalassaemia
blood transfusions with iron chelation (prevent iron overload) folic acid minor/some intermedia may not need regular treatment
53
alpha thalassaemia
deletions causing: ↓ alpha chain synthesis excess beta chains
54
alpha thalassaemia trait
1-2 deleted alpha chains asymptomatic mild anaemia
55
HbH disease
3 deleted alpha chains moderate anaemia splenomegaly
56
hydrops foetalis
4 deleted alpha chains | incompatible with life

Year 5 path (16 decks)

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