Haemophilia Flashcards
What is the definition of haemophilia?
X- linked condition associated with reduction or absence of clotting factor: 8👉 haemophilia A
9👉 haemophilia B
🔴 bleeding into joints & muscles
How many neonatal males with severe haemophilia have no family history?
50 % of them
In these cases 👉 90% chance that the mother is a carrier.
When the woman is considered an “ obligate carrier “ for haemophilia?
- her father has haemophilia
OR - she has an affected son+affected relative in the maternal line.
When the woman is considered likely to be a carrier for haemophilia?
- 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)
How is severity of haemophilia categorized?
According to the concentrations of F8/ F9:
Severe <0.01
Moderate 0.01- 0.05
Mild 0.06 - 0.4 iu/ ml
Why is it important to asses the severity of haemophilia?
❤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.
What are the risks in pregnancy to a mother who is a carrier of haemophilia?
Risk of bleeding following:
Invasive procedures/termination/ miscarriage/ delivery.
🛑 F8/F9 levels should be checked prior to any procedure.
What are the risks in pregnancy to the baby of haemophilia carrier mother?
Male neonates with haemophilia:
⬆️ risk of bleeding: ICH & ECH ( extracranial haemorrhage)
⬆️ risk of iatrogenic bleeding.
What is the prepregnancy management for women who are carriers of haemophilia?
1- baseline factor level should be determined before pregnancy.
2- attention to weight
3- correction of any iron deficiency.
What are the options for prenatal diagnosis PND in carriers of severe haemophilia?
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)
When to check maternal F8/9 in pregnant women who are identified as carriers of haemophilia?
1- at booking
2- before any antenatal procedure
3- in the 3rd trimester.
What are the changes in F8/9 levels in pregnancy ?
F8 levels rise in pregnancy
F 9 tends to remain stable.
In pregnant women who are identified as carriers of haemophilia; what are the levels of F8/ 9 should be achieved before any procedure?
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
What medications should be considered before procedures in pregnant women who are carriers of haemophilia?
❤ 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
What cautions should be considered in women who are treated by DDAVP?
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.
