Haemophilia

Question 1

What is the definition of haemophilia?

Answer 1

X- linked condition associated with reduction or absence of clotting factor: 8👉 haemophilia A
9👉 haemophilia B
🔴 bleeding into joints & muscles

Question 2

How many neonatal males with severe haemophilia have no family history?

Answer 2

50 % of them
In these cases 👉 90% chance that the mother is a carrier.

Question 3

When the woman is considered an “ obligate carrier “ for haemophilia?

Answer 3

• her father has haemophilia
  OR
• she has an affected son+affected relative in the maternal line.

Question 4

When the woman is considered likely to be a carrier for haemophilia?

Answer 4

• she has an affected son
  OR
• she has a single carrier daughter
  OR
• she has an affected maternal relative
  OR
  *( F8/ vwf )<0.7 👉 suggestive of carriership. ( > 0.7 doesn’t exclude)

Question 5

How is severity of haemophilia categorized?

Answer 5

According to the concentrations of F8/ F9:
Severe <0.01
Moderate 0.01- 0.05
Mild 0.06 - 0.4 iu/ ml

Question 6

Why is it important to asses the severity of haemophilia?

Answer 6

❤Severe haemophilia 👉 require regular prophylaxis with clothing factor replacement
( they experience spontaneous bleeding into muscles & joints.
❤ moderate to mild: may only bleed following trauma or invasive procedures / require cover for these times.

Question 7

What are the risks in pregnancy to a mother who is a carrier of haemophilia?

Answer 7

Risk of bleeding following:
Invasive procedures/termination/ miscarriage/ delivery.
🛑 F8/F9 levels should be checked prior to any procedure.

Question 8

What are the risks in pregnancy to the baby of haemophilia carrier mother?

Answer 8

Male neonates with haemophilia:
⬆️ risk of bleeding: ICH & ECH ( extracranial haemorrhage)
⬆️ risk of iatrogenic bleeding.

Question 9

What is the prepregnancy management for women who are carriers of haemophilia?

Answer 9

1- baseline factor level should be determined before pregnancy.
2- attention to weight
3- correction of any iron deficiency.

Question 10

What are the options for prenatal diagnosis PND in carriers of severe haemophilia?

Answer 10

1- offer PGD
2- offer fetal sex determination by free fetal DNA from 9 w
3- carrier with male fetus 👉offer PND with chorionic villus sampling
At 11- 14 w
4- carrier with Male fetus 👉 offer 3rd trimester amniocentesis to determine haemophilia status ( to inform options for delivery)

Question 11

When to check maternal F8/9 in pregnant women who are identified as carriers of haemophilia?

Answer 11

1- at booking
2- before any antenatal procedure
3- in the 3rd trimester.

Question 12

What are the changes in F8/9 levels in pregnancy ?

Answer 12

F8 levels rise in pregnancy
F 9 tends to remain stable.

Question 13

In pregnant women who are identified as carriers of haemophilia; what are the levels of F8/ 9 should be achieved before any procedure?

Answer 13

Aim for F8/9 levels of at least: 0.5 iu/ml
If treatment is required: 1 iu/ml & not allowed to fall below 0.5

Question 14

What medications should be considered before procedures in pregnant women who are carriers of haemophilia?

Answer 14

❤ tranexamic acid: in combination with treatment if FLs< 0.5
Sole therapy if FLs > 0.5
❤ desmopressin DDAVP : to raise the F8 levels.
❤ recombinant F8 : if levels obtained by DDAVP are insufficient
Or known non responder
❤ recombinant F9 : in women with F9Ls < 0.5

Question 15

What cautions should be considered in women who are treated by DDAVP?

Answer 15

1- fluids should be restricted to 1 L/ 24 h
2- monitor electrolytes. ( may cause hyponatremia ⬇️ Na)
3- should be avoided in women with preeclampsia.

Question 16

When giving treatment to raise clotting factor levels; how to monitor the response?

Answer 16

By measuring FLs before & after infusion
4-6 hours following treatment to facilitate the dosing.

Question 17

What is the optimal mode and timing of delivery, in carriers of haemophilia?

Answer 17

CS : in affected male babies
The fetal status is unknown
❤ AT 39 WEEKS
If vaginal delivery is intended: 👉 spontaneous labour is preferred

Question 18

What to avoid during labour in fetuses at risk of haemophilia?

Answer 18

External cephalic version
Ventouse
Midcavity forceps
Fetal blood sampling
Fetal scalp electrodes

Question 19

What is the effect of DDAVP on clotting factors ?

Answer 19

Can raise the levels of F8 + VWF
3 - 4 fold

Question 20

What is the recommended dose of DDAVP before procedures in carriers of haemophilia?

Answer 20

0.3 mcg / kg ( IV or subcutaneous)

Question 21

How can analgesia & anaesthesia be managed safely in carriers of haemophilia?

Answer 21

• FLs > 0.5 required for insertion or removal of epidural catheter or spinal anaesthesia.
  🛑 if FLs < 0.5 👉 intramuscular injections should be avoided.

Question 22

What is the haemostatic management during labour, in carriers of haemophilia?

Answer 22

🔴If FLs < 0.5 👉
*DDAVP : to raise F8 levels
*F9 concentrate : to raise F9
Aim for 1.0 iu / ml
🔴 FLs in low normal levels: tranexamic acid as sole therapy OR with previous medications.
🔴 should be given close to delivery as possible.

Question 23

What is the postpartum management in carriers of haemophilia?

Answer 23

1- active management of 3rd stage.
2- maintain FLs > 0.5 for :
3 days after vaginal delivery
5 days after instrumental delivery
Or CS
3- tranexamic acid: until lochia is minimal

Question 24

What is the neonatal management in babies for carriers of haemophilia?

Answer 24

All male babies 👉 cord sampling + diagnostic tests
Female babies 👉 testing not recommended
🛑 in a neonate with ⬇️ FL 👉 vit K orally
🔴severe or moderate haemophilia 👉 cranial US before discharge
🔴 symptoms or signs of ICH 👉 cranial MRI even if the Cranial US is normal.