Autosomal recessive

 

Features of autosomal recessive inheritance that you may see on a family:

 

  • Males and females have the condition in equal proportions.
  • Trait tend to skip generations.
  • When both parents are heterozygous approx. 25% of the progeny will be affected.

A

Albinism/ Alpha 1 antitrypsin deficiency

B

beta thalassemia

C

Cystic fibrosis

D

Dubin- Johnson syndrome

E

 enzyme deficiencies (glycogen storage and lysosomal storage)

F

Friedrich’s ataxia/ Fanconi anemia
 

G

 Gaucher’s disease/ Glanzmann’s thrombasthenia

H

Hemochromatosis/ Homocystinuria

S

 sickle cell disease

P

 phenylketonuria

W

Wilson’s disease

X

Xeroderma pigmentosum