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3A > paeds haematology > Flashcards

paeds haematology Flashcards

1
Q

What rhesus antigen causes haemolytic disease of the newborn?

A

rhesus D
(mother who is rhesus negative, baby who is rhesus positive)

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2
Q

Pathophysiology of rhesus haemolytic disease

A

rhesus negative mother has rhesus positive child
If her blood is exposed to the fetal blood it will produce anti-D antibodies (sensitisation)
In future pregnancies these can cross the the placenta and causes fetal anaemia.

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3
Q

what severe fetal emergency can occur in rhesus disease?

A

hydrops fetalis

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4
Q

How does rhesus disease present

A

jaundice (Early within 24 hours)
pallor
hepatosplenomegaly
hydrops fetalis
heart failure

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5
Q

how does hydrops fetalis present antinataly

A

polyhydramnios

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6
Q

how does hydrops fetalis present postnataly

A

subcutaneous oedema
pericardial effusion
pleural effusion
ascites
hepatosplenomegaly

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7
Q

What test is used to screen for rhesus disease during pregnancy

A

indirect coombs test- checks for antibodies to d in the maternal blood

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8
Q

Genetics of sickle cell disease

A

autosomal recessive condition affecting the beta-globin on chromosome 11

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9
Q

How does sickle cell disease present?

A

anaemia
increased risk of infection
sickle cell crisis- acute exacerbation, usually triggered by stress, cold weather, dehydration
Vaso-occlusive crisis- pain in hands or feet
priapism
Aplastic crisis
Acute chest syndrome

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10
Q

How does ALL present on blood smear

A

blast cells

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11
Q

How is von willebrands disease inherited

A

autosomal dominant (except type 3= recessive)

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12
Q

what are the three types of von-willebrands disease

A

type 1- partial reduction of vWF
type 2- abnormal form of vWF
type 3- total lack of vWF

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13
Q

what is the most common type of von willebrands disease

A

type 1 (80% of cases)

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14
Q

pathophysiology of von willebrands disease

A

a reduction or abnormality in von willebrands factor- a large glycoprotein that promotes platelet adhesion to damaged endothelium
Is also a carrier molecule for factor VIII

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15
Q

How does von willebrands disease present

A

epistaxis
menorrhagia
haemoarthrosis
muscle haematomas
easy bruising
GI bleeding
post natal haemorrhage

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16
Q

diagnosis of von willebrands disease

A

prolonged bleeding time
APTT may be prolonged, PT and TT will be normal
factor VIII levels reduced
von willebrand functional assay

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17
Q

how is von willebrand disease treated

A

tranexamic acid for mild bleeding
desmopressin
factor VIII concentrate

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18
Q

how does desmopressin treat von willebrand disease

A

it raises the levels of vWF by inducing release of vWF from Weibel - palade bodies in the endothelial cells

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19
Q

when does immune thrombocytopenic purpura commonly occur?

A

following a viral illness or immunisation

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20
Q

pathophysiology of immune thrombocytopenic purpura
which receptors are effected?

A

it is a type II hypersensitivity reaction where the spleen produces antibodies against the glycoprotein IIb/IIIa or Ib-V-IX complex

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21
Q

How does ITP present

A

purpura
petechiae
prolonged bleeding
mucocutaneous bleeding
heavy periods
blood in urine or stool

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22
Q

How can you differentiate between ITP and ALL

A

ATP will just have low platelets on bloods whereas ALL shows pancytopenia

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23
Q

what chemotherapy agents are used in ALL

A

vincristine
cyclophosphamide
doxorubicin
prednisolone

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24
Q

what is the inheritance of haemophilia?

A

x linked recessive

25
Q

what is haemophilia

A

an inherited bleeding disorder caused by a deficiency in a clotting factor

26
Q

what two types of haemophilia are there?

A

haemophilia type A and type B

27
Q

what factor is deficient in haemophilia type A

A

factor VIII (8)

28
Q

what factor is deficient if haemophilia type B

A

factor IX (9)

29
Q

How does haemophilia present?

A

haemarthrosis (bleeding into joints)
oral mucosa bleeding
epistaxis
GI bleeding
haematuria
prolonged bleeding after trauma or surgery

30
Q

how can haemophilia present in neonates

A

intracranial haemorrhage, haematomas, cord bleeding

31
Q

how is haemophilia diagnosed?

A

APPT will be prolonged
bleeding time, thombin time and prothrombin time will be normal
Genetics

32
Q

How is haemophilia treated>

A

infusion of the affected clotting factor (8 or 9)

33
Q

what is complication that can occur with the treatment of haemophilia type A and how common is it?

A

antibodies can develop to the treatment - occurs in 30%

34
Q

What can cause anaemia in infants

A

physiological anaemia
anaemia of prematurity
blood loss
haemolysis (e.g. G6PD, Rhesus)
twin to twin transfusion

35
Q

Why does physiological anaemia occur in infants and when does it present?

A

at around 6-9 weeks.
Occurs as neonates have a high Hb during birth which causes a negative feedback suppression of erythropoeisis.

36
Q

Why does anaemia of prematurity occur?

A
  • less time is spent in utero receiving mothers blood
  • RBC cannot keep up with growth
  • decreased erythropoeitin
  • multiple blood tests remove large proportions of blood
37
Q

main causes of anaemia in older children

A

iron deficiency of anaemia and blood loss duirng menstruation are the most common causes

Other:
- sickle cell
- thalassaemia,
- leukaemia
- hereditary spherocytosis
- sideroblastic anaemia

38
Q

what are some specific signs for iron deficiency anaemia?

A

pica
hair loss
kolionychia
angular chellitis
atrophic glossitis
brittle hair and nails

39
Q

what drug can cause iron deficiency anaemia and why?

A

PPIs- iron needs acid from the stomach to keep it soluble to carry it to the duodenum and jejunum where it is absorbed
PPI’s cause a decrease stomach acid.

40
Q

what are some causes of iron deficiency anaemia

A

helminth infections
menstrual loss
poor diet
poor absorption (e.g. Crohn’s)

41
Q

What is thalassaemia?

A

an inherited disorder where the body does not produce enough of one of the two haemoglobin chains

42
Q

what is the inheritance of thalassaemia

A

autosomal recessive

43
Q

what are the two forms of thalassaemia and what chromosome is associated with each?

A

alpha - chromosome 16
beta - chromosome 11

44
Q

what three types of beta thalassaemia are there?

A

minor- carrier of the gene
intermedia- two defective gene or one deleted and one defective
major- two deleted genes

45
Q

What test can be used to check how much fetal blood has passed into the mothers, and hence determine if further anti-D is required?

A

Kleinhauer’s test

46
Q

explain the pathophysiology of alpha thalassaemia

A

there are 4 alleles for the alpha globin chain- two on each chromosome
If 1-2 alleles are defective then the patient will usually be normal
if 3 alleles are affected then the pateint has HbH disease and will need transfusions
If 4 alleles then hydrops fetalis occurs in utero .

47
Q

how is thalassaemia diagnosed?

A

haemoglobin electrophoresis

48
Q

What is the treatment of thalassaemia

A

blood transfusions
iron chelation
bone marrow transplant

49
Q

why does iron overload occur in thalassaemia

A

faulty RBC are broken down
transfusions increase iron
the gut increases iron absorption in response to anaemai

50
Q

How does iron overload present?

A

liver cirrhosis
infertility
impotence
HF
diabetes
arthritis
osteoporosis

51
Q

What can be used to treat iron overload in thalassaemia

A

desferrioxamine

52
Q

how does thalassaemia present?

A

anaemia
jaundice
extramedullary haematopoeisis (pronounced forehead and malar eminences)
hepatosplenomegaly

53
Q

What is fetal haemoglobin made up of

A

two alpha and two gamma chains

54
Q

what is fanconi anaemia

A

an inherited bone marrow failure syndrome

55
Q

inheritence of fanconi anaemia

A

autosomal recessive

56
Q

How does fanconi anaemia present?

A

haem features- aplastic anaemia (bleeding, infections etc)
neurological symptoms
skeletal signs (short, thumb abnormalities)
cafe au lait spots
solid tumours (liver, neck, oesophageal )

57
Q

what haem cancer is associated with fanconi anaemia

A

AML

58
Q
A

3A (42 decks)

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