Carrier mother

Normal
gene

The Parents

Altered
gene

Carrier father

Normal
gene

Altered
gene

Fertilisation

Normal
gene only

Altered gene
and normal gene

Altered gene
and normal gene

Altered
gene only

Child is not
affected

Child is
a carrier

Child is
a carrier

Child has a
disorder

(1 in 4 chance in each
and every pregnancy)

(2 in 4 chance in each and

every pregnancy)

(1 in 4 chance in each
and every pregnancy)

Diagram to show pattern of genetic inheritance for autosomal recessive

disorders such as sickle cell disease, cystic fibrosis and thalassaemia

Not a carrier

HPFH

Hb DPunjab

Hb C

Hb OArab

Hb E

Hb Lepore

d-thal

Hb S

Carrier of:

-thal

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
Serious risk refer couple
for counselling, pre-natal
diagnosis to be offered

Table based on the work of Prof. B. Modell.

Less serious risk refer

couple for counselling,
further investigation
maybe required

No risk no further
action required