PBL

Question 1

Beta Thalassemia Minor

Answer 1

Only one beta globin gene has a mutation, the other is normal

Question 2

Beta Thalassemia Major

Answer 2

Autosomal recessive

Mutation in beta globin gene of hemoglobin causes lack of functional beta-globin.

Too much alpha chain binds RBCs.

Problem of iron overload is due to frequent blood transfusions.

Question 3

Accutane/Isotretinoin Teratogenicity

Answer 3

Excess retinoic acid exposure causes Hox genes to be expressed in regions they’re not usually expressed in (more anteriorly, in rhombomeres 1 and 2, creating the pharyngeal arches)

Cleft palate, micrognathia (underdevelopment of lower jaw), microtia (and deafness) and CNS malformations