In this short account of the molecular pathology of hemoglobin we have considered how mutations at or close to the a or P globin genes result in a diverse family of clinical disorders due to the defective synthesis of hemoglobin or its abnormal structure. Work in this field over the last 20 years has given us a fairly good idea of the repertoire of different mutations that underlie single-gene disorders and how these are expressed as discrete clinical phenotypes. Perhaps more importantly, however, the globin field has taught us how the interaction of a limited number of genes can produce a remarkably diverse series of clinical pictures, and something of the basis for how monogenic diseases due to the same mutation may vary widely in their clinical expression.
Was this article helpful?
Learning About 10 Ways Fight Off Cancer Can Have Amazing Benefits For Your Life The Best Tips On How To Keep This Killer At Bay Discovering that you or a loved one has cancer can be utterly terrifying. All the same, once you comprehend the causes of cancer and learn how to reverse those causes, you or your loved one may have more than a fighting chance of beating out cancer.