GENETICS: ========== Jigsaw Activity: Understanding How Missense Mutations in Be

Question

GENETICS:

==========

Jigsaw Activity: Understanding How Missense Mutations in Beta-globin Cause the SCA Phenotype

Questions:
4. How does the mutation affect the structure of the Hb heterotetramer?
5. How does this change in protein structure affect the shape of each RBC?
6. How does the shape of the RBCs affect the body? (back to the 2 main physical problems)

NOTE: please answer these 3 sub-questions separately so that I can award the Best Answers. Please don't copy paste paragraphs as I already have those in my books.

Explanation / Answer

Answer 4:- haemoglobin has four prtein subunits , two are known as alpha sub units and other two are called beta subunits.

in sickle cell disease one of the beta glbuin changes with haemoglobin S that is why they call this disease as sickle cell disease but specifically in sickle cell anemia both the beta globulin subunit changes with haemoglobin S.

answer 5:- shape of RBC become sickle shape. its oxygen carrying capacity reduces.

answer 6:- Physical impacts are:-

paleness /jaundice

geting tired easily

shortness of breath,dizziness and headache

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