Description
Swee Lay Thein, M.B., B.S., D.Sc., is no stranger to cutting edge scientific research—12 years ago she found three segments of DNA, including BCL11A, that stimulate fetal hemoglobin, or HbF. HbF is present during fetal life and is replaced by adult hemoglobin around birth. High levels of HbF in adults are harmless and can minimize the complications of sickle cell disease, a chronic and painful red blood cell disorder primarily affecting people of African ancestry.
Her discoveries have sparked interest in the scientific community to design treatments that would make more HbF in the body, including activating the BCL11A gene. But Thein is shooting for something even bigger. She is working to increase therapeutic options that would be accessible to all patients. The root cause of sickle cell disease is the formation of rigid strands that develop inside the red blood cells of people with the disease, ruining their structure and causing their “sickled” shapes.
“There are exciting therapeutic agents that work against polymerization, the process that changes the shape of the cell,” said Thein, senior investigator and chief of NHLBI’s Sickle Cell Branch. “One of the best things we can do is put out the fire and block this process that is the basis of the disease.”
By understanding the nature of sickle cell disease, Thein hopes that this type of treatment will one day reduce the severity and length of the pain crises that are the devastating hallmark of the disease. Although her work has been transformative, Thein knows that she and her team are only scratching the surface of understanding the disease at the gene level. With new genetic techniques available, Thein hopes to be able to predict the severity of the disease and help with its earlier detection and treatment.
Learn more about Swee Lay Thein
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Sickle Cell Disease Health Topic
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