Haemophilias & Rare Coag disorders

Question 1

what is Haemophilia A

Answer 1

• X-linked recessive (male>Fe)
• defective/deficient FVIII

Question 2

what is Haemophilia B

Answer 2

• X-linked recessive (male>Fe)
• defective/deficient FIX

Question 3

What Lab results would you expect in a person w/ Haemophilia A

Answer 3

Normal: [plt], PFA, PT, vWF Ag & function, aPTT 50:50 corrected
Abnormal: Prolonged aPTT (intrinsic pathway), FVIII:C

Question 4

What Lab results would you expect in a person w/ Haemophilia B

Answer 4

Normal: [plt], PFA, PT, vWF Ag & function, aPTT 50:50 corrected
Abnormal: Prolonged aPTT (intrinsic pathway), FIX:C

Question 5

What’s the most mutation mechanism contributing to 50% cases of Haemophilia A

Answer 5

Inversion of intron 22 during meisosis => interupts F8 mRNA => Haemo. A

Question 6

briefly list the Genetic lesions of Haemophilia A

Answer 6

• Point mutations: all exons
• Insertions: exon 14
• Deletions: exon 14
• Splice site mutations: mostly on exon 5 => alter mRNA, sequ.
• Inversions: of intron 22 or intron 1 => alter mRNA

Question 7

What is FVII deficient (rare coag disorder)

Answer 7

• most common RCD
• autosomal recessive inherited
• mutations on exon 8 of F7 gene (13q)

Question 8

What is FI deficient (rare coag disorder)

Answer 8

disorder of fibrinogen: quantity (type 1) & quality (type 2)

Question 9

What is FV deficient (rare coag disorder)

Answer 9

• very rare autosomal recessive
• mutations in F5 gene

Question 10

What is combined FV & FVII deficient (rare coag disorder)
& aPTT & PT results

Answer 10

• rare autosomal recessive
• reduced FV & FVII
• mutations in LMAN1 & MCFD2 gene
• prolonged aPTT & PT but corrected aPTT mix

Question 11

What is FX deficient (rare coag disorder)

Answer 11

• homozygous autosomal recessive
• mild FX deficiency
• mutations in F10 gene

Question 12

overview of ‘Rare Coagulation Disorders (RCD)

Answer 12

• inherited deficiencies
• autosomat recessive traits