Paeds haematology Flashcards

1
Q

pathophysiology ITP

A

Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex. It is an example of a type II hypersensitivity reaction.

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2
Q

when is management indicated for ITP? what are options?

A

If the platelet count is very low (e.g. < 10 * 109/L) or there is significant bleeding.

  • oral/IV corticosteroid eg prednisolone
  • IV immunoglobulins
  • platelet transfusions can be used in an emergency (e.g. active bleeding) but are only a temporary measure as they are soon destroyed by the circulating antibodies
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3
Q

Philadelphia chromosome t(9;22)

A

chronic myeloid leukemia

65+

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4
Q

Most common leukemia in children? triad?

A

Acute lymphoblastic leukemia

anaemia, thrombocytopenia, neutropenia

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5
Q

Genetics and inheritance sickle cell

A

autosomal recessive

abnormal variant called haemoglobin S (HbS)

abnormal gene for beta-globin on chromosome 11

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6
Q

Definitive diagnosis sickle cell disease

A

haemoglobin electrophoresis

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7
Q

Management sickle cell

A

General:
- avoid dehydration and triggers
- vaccines inc pneumococcal polysaccharide vaccine every 5 years
- abx prophylaxis eg penicillin V
- hydroxycarbamide (stimulate fetal HbF)
- blood transfusion
- bone marrow transplant can be curative

vaso-occlusive pripism:
- aspiration of blood

splenic sequestration:
- blood transfusion and fluid resus

aplastic:
- blood transfusion

acute chest:
- abx and antivirals
- blood trans
- ventilation

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8
Q

reticulocyte count sickle cell anaemia?

A

high (needing to constantly make new rbc)

may be low in aplastic crisis

normal is 0.45–1.8 percent

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9
Q

cause of aplastic crisis sickle cell

A

parovirus B19

reticulocytes may be low

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10
Q

gold standard investigations sickle cell

A

Haemaglobin electrophoresis

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11
Q

blood film sickle cell

A

A blood film shows target cells and Howell-Jolly bodies.

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12
Q

Blood reuslts rickets

A

Low calcium, low phosphate, high ALP and high PTH

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13
Q

Inheritance of thalassemia?

A

autosomal recessive

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14
Q

What does FBC show thalassemia?

A

microcytic anaemia

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15
Q

Investigations thalassmeia

A

Full blood count shows a microcytic anaemia.
Haemoglobin electrophoresis is used to diagnose globin abnormalities.
DNA testing can be used to look for the genetic abnormality

Pregnant women in the UK are offered a screening test for thalassemia at booking.

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16
Q

On what chromosome is defect that causes alpha thalassemia?

A

chromosome 16

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17
Q

On what chromosome is defect that causes beta thalassemia?

A

chromosome 11

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18
Q

beta thalassemia minor pathophysiology, presentaiton and management

A

Patients with beta thalassaemia minor are carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene.

Thalassaemia minor causes a mild microcytic anaemia and usually patients only require monitoring and no active treatment.

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19
Q

Thalasssemia intermedia - pathophysiology, presentation, management

A

Patients with beta thalassaemia intermedia have two abnormal copies of the beta-globin gene. This can be either two defective genes or one defective gene and one deletion gene.

Thalassaemia intermedica causes a more significant microcytic anaemia and patients require monitoring and occasional blood transfusions. If they need more transfusions they may require iron chelation to prevent iron overload.

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20
Q

Thalassemia major - pathophysiology, presentation, manageement

A

Patients with beta thalassaemia major are homozygous for the deletion genes. They have no functioning beta-globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood.

Thalassaemia major causes:
Severe microcytic anaemia
Splenomegaly
Bone deformities

Management involves regular transfusions, iron chelation and splenectomy. Bone marrow transplant can potentially be curative.

21
Q

What is haemophilia A caused by

A

deficiency in factor VIII

22
Q

What is haemophilia B caused by

A

Deficiency in factor IX

23
Q

Diagnosis of haemophilia

A

bleeding scores
coagulation factor assays
genetic testing.

24
Q

Management of haemophilia

A

Infusions of the affected factor (VIII or IX) - either prophylacticly or in response to bleeding

Desmopressin to stimulate the release of von Willebrand Factor

Antifibrinolytics such as tranexamic acid

25
Q

Most common causes of anaemia in older children?

A

Iron deficiency anaemia secondary to dietary insufficiency. This is the most common cause overall.
Blood loss, most frequently from menstruation in older girls

26
Q

Worldwide, a common cause of blood loss causing chronic anaemia and iron deficiency is?

management?

A

helminth infection, with roundworms, hookworms or whipworms.

This can be very common in developing countries and those living in poverty. It is more unusual in the UK.

Treatment is with a single dose of albendazole or mebendazole.

27
Q

what is fanconi anaemia?

A

autosomal recessive aplastic anaemia (pancytopaenia)

28
Q

what does high total iron binding capacity indicate?

A

iron deficicency

A total iron-binding capacity (TIBC) test measures the blood’s ability to attach itself to iron and transport it around the body. A transferrin test is similar. If you have iron deficiency anaemia (a lack of iron in your blood), your iron level will be low but your TIBC will be high.

29
Q

relationship between iron and stomach acid

A

Iron is mainly absorbed in the duodenum and jejunum. It requires the acid from the stomach to keep the iron in the soluble ferrous (Fe2+) form. When there is less acid in the stomach, it changes to the insoluble ferric (Fe3+) form. Therefore, medications that reduce the stomach acid, such as proton pump inhibitors (lansoprazole and omeprazole) can interfere with iron absorption.

30
Q

Microcytic anaemia

A

Thalamssemia
Anaemia of chronic disease
Iron deficiency
Lead posioning
Sideroblastic anaemia

31
Q

Normocytic anaemia

A

Anaemia of chronic disease
Aplastic
Acute blood loss
Haemolysis
Hypothyroid

32
Q

Macrocytic anaemia

A

megaloblastic macrocytic
- folate, DNA

normoblastic
- alcohol
- liver disease

33
Q

What is volwillebrand disease

A

not good at clotting
easy prolonged bleeding
eg gums, periods etc

most common cause of abnormal bleeding

autosomal dominant

34
Q

Management von willebrand disease

A

desmopressin

von willebrand infusion

35
Q

inheritance von willebrand disease

A

autosomal dominant

36
Q

jaundice and anaemia in parovirus B19

A

spherocytosis

37
Q

diagnostic test g6pd deficiency

A

G6PD enzyme assay around 3 months after an acute episode of hemolysis

RBCs with the most severely reduced G6PD activity will have hemolysed → reduced G6PD activity → not be measured in the assay → false negative results

38
Q

things that can ppt a crisis in g6pd

A

FACS

anti-malarials: primaquine
ciprofloxacin
sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas

infections
broad (fava) beans

39
Q

diagnosis of spherocytosis

A

family history + blood results :MCHC high, high reticulocytes, spherocytes

if ambiguous: EMA binding test and the cryohaemolysis test
for atypical presentations : electrophoresis analysis of erythrocyte membranes is the method of choice

40
Q

out of g6pd and spherocytosis, which is x linked? which is autosomal dominant

A

g6pd - X linked
spherocytosis - autosomal dominant

41
Q

out of g6pd and spherocytosis, which affects people of northen european descent, which affects people of african and mediterranean descent?

A

g6pd - african and med
spherocytosis - north europe

42
Q

neonatal jaundice is often seen
intravascular haemolysis
gallstones are common
splenomegaly may be present
Heinz bodies on blood films. Bite and blister cells may also be seen

A

gdpd deficiency

43
Q

failure to thrive
jaundice, gallstones
splenomegaly
aplastic crisis precipitated by parvovirus infection
degree of haemolysis variable
MCHC elevated
spherocytes on blood film

A

spherocytosis

44
Q

bite and blister cells on blood film

A

g6pd deficiency

45
Q

Management of spherocytosis

A

Folate supplementation
splenectomy
gall stone removal

46
Q

presentation alpha thalassemia major

A

hydrops fetalis
incompatible with life

47
Q

cabot rings

A

perinicious anaemia

48
Q

pathophysiology TTP

A

ADAMTS-13 deficiency

inherited or autoimmune

49
Q

PResentation TTP

A

Typically adult females
fever
fluctuating neuro signs (microemboli)
microangiopathic haemolytic anaemia
thrombocytopenia
renal failure