Seven thousand, three hundred years ago, the mutation of a single gene for hemoglobin, a component of blood, arose among the people living in the Mediterranean region and in Africa, in areas where malaria existed. Individuals with the mutated gene were more likely to survive malaria, an adaptation that helped to preserve the human species.
But people who were born with two of these genes, one from each parent, suffer from Sickle Cell Disease. “Your red blood cells form a sickle shape or like a C shape within your bloodstream,” explains Brett Giroir, a pediatric doctor and Admiral in the United States Public Health Service who currently serves as the Assistant Secretary for Health at the U.S. Department of Health and Human Services. “It can be due to certain circumstances or triggers, but often unexpectedly. And that causes a lot of problems:”
“Some of the things you see in early childhood are severe pain crises where children are in extreme pain in their bones or in their abdomen or other places. You can have strokes with it. It can also cause profound organ damage and damage to your immune system. That damage to the immune system happens very, very early. So children who don't get appropriate care can die of bacterial infections very rapidly.”
75 percent of the cases occur in sub-Saharan Africa, where every year, about 300,000 children, are born with the disease. 80 percent of them die before their fifth birthday. However, there is hope, and it will just take a few simple steps, said Admiral Giroir:
“If we can screen a newborn, screen to identify which child is born with sickle cell disease and just implement very basic kind of primary care. . . .If we do that, we can save nine million children worldwide by the year 2050."
That’s the first step. Second, the children need good primary health care, including vaccinations, and penicillin to prevent infections.
Third, to reduce the severity of the disease throughout the years, they need to be treated with hydroxyurea, an inexpensive but effective drug.
And finally, they must be treated for pain.
“This will not go away on its own,” said Admiral Giroir.“If we turn our heads, nothing will change. But if we focus on what needs to be done, what people deserve to be done, then we can change the world in a very short period of time.”
