Genetics in Medicine

The hemoglobin E (HbE) allele of b globin, which is associated with reduced production of the b-globin chain, occurs at a very high frequency in which region?

Which of the following types of mutations can cause a loss of function to the protein?

Why can a-globin mutations have an effect earlier in life than b-globin mutations?

Which clinical phenotype is associated with an imbalance in the production of the a- and b-globin chains?

At which stage can a mutation disrupt the normal production of a protein?

Which of the following is the most common effect of a disease causing mutation on a protein?

Why is hydrops fetalis largely restricted to Southeast Asia?

Which clinical phenotype is associated with a b-chain mutation that locks the hemoglobin into the relaxed state, which has a high affinity for oxygen?

What is the effect of deletion of the locus control region for the b-globin gene cluster?

In addition to mutations in a globin, a thalassemia can result from mutations in which of the following genes?

Four sites associated with what type of DNA conformation are important for the regulatory control of b globin expression by the locus control region (LCR)?

A transition between which two hemoglobin molecules occurs around the time of birth?