1). What are mitochondrial mutations? List two disorders due to mitochondrial mutations.

2). What are complex disorders? List three complex disorders.

3). What is chromosomal imbalance? List three disorders due to chromosomal imbalance.

4). What are autosomal dominant disorders? List two autosomal dominant disorders.

5). What are monogenic recessive disorders? List two monogenic recessive disorders.

6). What are haemoglobinopathies?

7). Name the different types of haemoglobinopathies.

8). What is the difference in DNA sequence between normal haemoglobin A and haemoglobin S genotypes? In which chromosome is the affected gene located? Which amino acid substitution is implicated due to HbS genotype?

9). What is a sickle cell and what is the name of the disease that can arise from having sickle cells in circulation?

10). What are the implications of having sickle red blood cells in the circulation?.

11). How is sickle cell disease (SCD) inherited?

12). What advice would you give for the management of SCD

13). What are the treatment options available for SCD.

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