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Hemoglobinopathies: real mutations; real people

'Hemoglobinopathies' are human genetic diseases (i.e. diseases arising because of inherited mutations rather than infection). There are many, many different mutant hemoglobin genes among human populations. Some have no consequences, some are lethal... and everything in between. By looking at the amino acid change and its location in the protein, you can often achieve important insights about the disease.

*** in some cases, a cluster of 2 or more amino acids will be shown; the lighter atoms belong to 'informative' non-mutant amino acids that may help your detective work
Use the following buttons to compare the different mutations the deoxy (blue) vs. oxy (red) states


Oxygen-releasing form only

Highlight the following amino acids to answer the questions in the exercises:

Heme is light green

Amino acids

alpha chain

beta chain

Use the different conformations and the two labeling formats to answer the questions in the exercises.