Haemoglobinopathies

Question 1

Define anaemia:

Answer 1

• ‘condition where number, size of hb levels in blood are decreased’ (NICE, 2024)

Question 2

What is low hb in pregnancy

Answer 2

• <110g/L and <100g/L postpartum (WHO, 2023)
  -accompanying low ferretin
  -treated when signs of low iron

Question 3

Global prevalence of anaemia

Answer 3

Mainly Asia and Africa

Question 4

How is iron ‘saved’?

Answer 4

-lack of periods
-increased absorption

Question 5

How is iron ‘lost’?

Answer 5

-increase in erythrocytes
-placental and fetal needs
-blood loss during delivery
-lactation

Question 6

Mean cell volume

Answer 6

-Average volume of red cells
-non pregnant range: 77-79 femolitres
-should increase in pregnancy

Question 7

Mean cell haemoglobin

Answer 7

-average amount of hb in rbc
-non pregnant range is 26-32 picogrammes
-indicates how well filled the cells are

Question 8

Packed cell volume

Answer 8

-Hematocrit levels
-falls by about 33%
-ferritin levels also fall during pregnancy

Question 9

Why does RBC number increase by 25%

Answer 9

3 fold rise in erythropoietin in 2nd trimester

Question 10

Why does the concentration of RBC reduces?

Answer 10

-more blood plasma
-important for smoother circulation which reduces heart strain

Question 11

Causes of anaemia

Answer 11

-poor diet
-Disease
-PPH
miscarriage
Multiple pregnancies
-medication

Question 12

Signs and symptoms of anaemia

Answer 12

-tachycardia
-fatigue
-palpitations
-feeling cold
-pale mucous membranes

Question 13

Effects of anaemia on pregnancy

Answer 13

-lowered immunity
-higher risk of postnatal depression

Question 14

Effects of anaemia on the baby

Answer 14

-intrauterine hypoxia
-IUGR
-low birthweight
-preterm

Question 15

Diet management:

Answer 15

-red meats, fish
-leafy greens, fruit
-fortified cereals
-iron with Vit C (OJ)

Question 16

Iron supplements

Answer 16

-ferrous fumerate
-322mg
-may cause nausea and vomiting and constipation

Question 17

Infusions

Answer 17

-if oral iron has failed, transfusion at >34/40
-IV iron, mandatory test does due to high risk of anaphylaxis
-CPR facilities
-requires strict monitoring as it can cause SVT

Question 18

Folate use

Answer 18

-DNA synthesis and cell duplication
-3 fold increase in pregnancy
- affects 1/3 pregnancy

Question 19

What happens to rbc if folate is depleted?

Answer 19

-delayed maturation of RBC
-misshapen and reduced survival time

Question 20

Signs and causes of folate deficiency:

Answer 20

-poor diet, malabsorption and drugs
-extreme tiredness
-depression
-pins and needles

Question 21

Risks with folate deficiency:

Answer 21

-miscarriage
-APH
-preterm labour
-neural tube defects

Question 22

Food and supplements for folate

Answer 22

-broccoli, brown rice and chickpeas
-damaged by heat so uncooked fruit and veg
-400mcg supplement recommended during preconception and until 12/40
-5mg to women whose babies have previous defects or have diabetes, etc (NICE, 2023)

Question 23

B12 use

Answer 23

-helps form myelin that insulates your nerves
-helps to produce hb and energy from protien metabolism

Question 24

Signs of b12 deficiency:

Answer 24

-pale yellow tinge
-mouth ulcers
-irritability and depression
-decline in memory, judgement

Question 25

Source of B12:

Answer 25

-meat -eggs -cheese -marmite

Question 26

Treatment for b12 deficiency

Answer 26

Lifelong injections of b12 every 3 months

Question 27

How many protien sub units is adult hb made up from?

Answer 27

-4 -2 alpha and 2 beta globin -97%

Question 28

Are SC and thalassaemia recessive or dominant

Answer 28

Autosomal recessive so child needs to inherit two copies

Question 29

What is alpha thalasssmia

Answer 29

Mutation in alpha glob in gene

Question 30

What is beta thalassemia

Answer 30

Body doesn’t make as much beta glob in gene as it should causing anaemia and needing blood transfusions if intermediate or major

Question 31

Antenatal management for thalassaemia

Answer 31

-regular hb and ferritin -haematology team

Question 32

Intrapartum care for thalassaemia

Answer 32

-risk of hypoxia -risk of preterm labour -CTG -active third stage

Question 33

Postnatal care for thalassaemia

Answer 33

-observe for infection and haemorrhage -paediatric follow up

Question 34

What is sickle cell

Answer 34

-disease that affects the shape of the rbc making them impaired to carry oxygen -these rbc become sticky and can stick together slowing blood flow and cause pain and inflammation

Question 35

Treatment for sickle cell

Answer 35

-1mg folic acid per day -penicillin -anticoagulants -iron -blood transfusion

Question 36

Symptoms of sickle cell-pain

Answer 36

-weakness -pain -fever -breathlessness

Question 37

Antenatal management of sickle cell

Answer 37

-folic acid -haematology team -see every 2-4 weeks -aspirin

Question 38

What can cause a sickle cell crisis?

Answer 38

-infection -pain -stress

Question 39

Intrapartum management of sickle cell

Answer 39

-HDU -CTG -pain relief -avoid prolonged labour -active third

Question 40

Postnatal management for sickle cell

Answer 40

-pph -dvt -crisis

Question 41

Neonatal management for sickle cell

Answer 41

Electrophoresis to screen for sickle cell at three weeks