1. SECTIONS:
2. preface & acknowledgements
3. genetics at a glance
4. contacts, support & testing
5. testing & pregnancy
6. newborn screening
7. cancer in the family
8. cardiovascular conditions
9. chromosomal conditions
10. clotting & bleeding conditions
11. cystic fibrosis
12. diabetes
13. fragile X syndrome and other causes of developmental delay
14. haemoglobinopathies
15. hereditary haemochromatosis
16. neurofibromatosis
17. neurological conditions
18. psychiatric conditions
19. genetics in practice
20. emerging genetic technologies
21. glossary

Prevalence

 

Haemophilia A

1. Affects approximately 1 in 4,000 to 1 in 10,000 males.
2. The number of females affected is approximately 1 in 25,000,000 due to the inheritance of homozygous
   alleles for haemophilia A.
3. Female carriers of haemophilia A:
4. Most have levels of factor VIII that are 50% of normal and are therefore unaffected.
5. Approximately 10% have low enough factor VIII activity levels to have mild bleeding themselves.
   This may be due to skewed X inactivation.

 

Haemophilia B

1. Affects approximately 1 in 20,000 males.
2. Female carriers of haemophilia B:
3. Most have levels of factor IX that are 50% of normal and are therefore unaffected
4. Approximately 10% have low enough factor IX activity levels to have mild bleeding themselves.
   This may be due to skewed X inactivation.

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