MIidwife Risk Card 08 Double Sided
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Transcript of MIidwife Risk Card 08 Double Sided
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Diagram to show pattern of genetic inheritance for autosomal recessive disorders such as sickle cell disease, cystic fibrosis and thalassaemia
The Parents
Fertilisation
Altered gene only
Normal gene only
Altered gene and normal gene
Altered gene and normal gene
Child has a disorder
(1 in 4 chance in each and every pregnancy)
Child is not affected
(1 in 4 chance in each and every pregnancy)
Child is a carrier
Child is a carrier
(2 in 4 chance in each and every pregnancy)
Carrier father
Altered gene
Normal gene
Carrier mother
Altered gene
Normal gene
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Serious risk refer couple for counselling, pre-nataldiagnosis to be offered
Less serious risk refer couple for counselling, further investigationmaybe required
No risk no furtheraction required
Table showing parental carrier state combinations that give rise to the risk of a fetus with significant sickle cell disease or -thalassaemia
Hb S
-thal
d-thal
Hb Lepore
Hb E
Hb OArab
Hb C
Hb DPunjab
HPFH
Not a carrier
Hb
S
-t
hal
d-t
hal
Hb
Lep
ore
Hb
E
Hb
OA
rab
Hb
C
Hb
DPu
nja
b
HPF
H
No
t a
carr
ier
Carrier of:
Table based on the work of Prof. B. Modell.