Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Year 5 😊✌🏼 > Path Haem 2 > Flashcards

Path Haem 2 Flashcards

1
Q

What proteins are most commonly mutated in hereditary spherocytosis?

A

Spectrin

or ankyrin

(they are RBC membrane proteins)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the inheritance pattern of hereditary spherocytosis?

A

Autosomal dominant (75% cases)

however 25% of cases are recessive or de novo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

severity of hereditary spherocytosis

A

there is a range

mild (20-30%, often asymptomatic)
moderate (most common, usually presents in infancy or childhood)
severe (can even present in utero with hydrops fetalis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is the classic triad that hereditary spehrocytosis presents with?

A

anaemia
splenomegaly
jaundice (due to increased unconjugated bilirubin)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What additional risks are patients with hereditary spherocytosis at risk of?

A
  • gallstone formation
  • susceptibility to the effect of parvovirus B19 infection
  • haemolytic / aplastic crises
  • megaloblastic anaemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the underlying pathophysiology in hereditary spherocytosis?

A
  1. Genetic mutation

→ defects in RBC membrane protein → sphere-shaped RBCs with decreased membrane stability
→ inability to change form while going through narrowed vessels

  • Entrapment within splenic vasculature → splenomegaly
  • Destruction via splenic macrophages → extravascular hemolysis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What type of gallstones do people with hereditary spehrocytosis get?

A

black pigment gallstones

(can lead to cholecystitis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What findings can you see on blood smear in hereditary spherocytosis?

A

spherocytosis

potentially anisocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How do you diagnose hereditary spherocytosis?

A
  • spherocytes
  • flow cytometry (EMA binding test)
  • positive osmotic fragility test (increased osmotic fragility (lysis in hypotonic solutions))
  • DAT -ve (Coombs) -> not immune mediated
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Management of hereditary spherocytosis?

A

folic acid
splenectomy (sole definitive treatment)

phototherapy in neonates to prevent kericterus
blood transfusions may be required

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What vaccines should you give before splenectomy?

A

strep pneumoniae
HiB
N. meningitidis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the functions of the spleen?

A

elimination of damaged erythrocytes from the blood stream

opsonisation and removal of encapsulated organisms from the bloodstream

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is asplenia?

A

absence of normal spleen function (functional asplenia) or of the spleen itself (anatomic asplenia)

you can also have congenital asplenia, but this is very rare (1 in 10 000)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

typical blood smear + FBC findings in patients with asplenia

A

Howell-Jolly bodies
neutrophilia
thrombocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Important considerations in the management of asplenia in patients

A

MedicAlert bracelet
prevent dog/tick bites
caution when travelling to malaria endemic areas
immunise against encapsulated organisms
treat with antibiotics early

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the myeloproliferative disorders?

A

CML
ET (essential thrombocythaemia)
PV (polycythaemia vera)
PMF (primary myelofibrosis)

17
Q

What can be seen on BM in myelofibrosis?

A

fibrosis
‘‘dry tap’’

18
Q

What mutations are common in myelofibrosis?

A

JAK2 (60%) - Janus kinase
MPL mutation

CALR mutation

19
Q

What is Budd-Chiari syndrome?

A

a rare condition resulting from hepatic vein obstruction that leads to hepatomegaly, ascites, and abdominal discomfort.

  • It is most commonly due to a thrombotic occlusion secondary to a chronic myeloproliferative neoplasm (e.g., polycythemia vera), but may be caused by other conditions associated with hypercoagulable states.
20
Q

What is the commonest and second most common inherited cause of exocrine pancreatic insufficiency in children?

A
  1. CF
  2. Schwachmann Diamond Syndrome
21
Q

What is the classical inheritance pattern of G6PD deficiency?

A

X-linked recessive

22
Q

What first line small molecule inhibitor is used in the treatment of chronic lymphocytic leukaemia?

A

Ibrutinib (tyrosine kinase inhibits)

23
Q

What does CML do to the spleen and how?

A

Classically it causes massive splenomegaly due to splenic infiltration of myeloid cells.

24
Q

What haematological changes are seen in pregnancy?

A

++ increased plasma volume
+ increased cell mass
- decreased Hb
+ increased MCV
decreased haemltocrit
decreased platelets
+ increased WCC
+ increased factors VII, VIIII, IX, X, XII
decreased Factor XI
decreased Protein S

25
Q

route of administration of Anti-D in pregnancy

A

IM

but can also be given IV

26
Q

When is routine antenatal prophylaxis of anti-D given?

A

28 and 34 weeks

27
Q

What dose of anit-D is given during the routine antenatal timings and when are these?

A

250 IU

given IM at 28 and 34 weeks

Year 5 😊✌🏼 (53 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions