Like many of you, my wife and I took the DNA plunge for fun and spit in the cup. She is genetically perfect, but I, however, am a carrier for alpha-1 anti-trypsin deficiency, hemochromatosis, and like 1 in 19 Irish people, cystic fibrosis. Plus, I was in the top 20% for Neanderthal genes.
Dr. Brett M. Coldiron
My Y chromosome had traveled to the United States from Europe, where it had spent several hundred years in Ireland (in the house of Neal); wandering to Ireland from the Middle East, and originating in Siberia! Fascinating stuff.
away. It is hypothesized that the very-high-frequency deleterious genes have a survival advantage in the heterozygous state, coined the “heterozygote advantage.”
Alpha-1 antitrypsin deficiency allows the body to concentrate an inflammatory response in the lungs and liver, perhaps providing protection against tuberculosis (Am J Respir Crit Care Med. 2006 May 15;173[10]:1072-7).
Hemochromatosis allows for increased iron absorption attributable to decreased iron in a grain-based diet, and facilitates thyroid-stimulating hormone release in cold environments (Am J Phys Anthropol. 2016 May;160[1]:86-101).
Cystic fibrosis carriers are more resistant to diarrheal illness, particularly cholera and typhoid fever since they have only one exudative chloride channel to switch on. Their sputum is also thicker, interfering with microdroplet generation and spread of the bacilli to others.
This topic and learning of my CF carrier status bring to mind one of my patients. When doing skin exams, I sometimes ask patients about elaborate tattoos (not the obvious youthful misadventures). “Nice ink” I will say, and I wait and see if they want to elaborate. This particular patient was enthusiastic and explained that the elaborate floral design with roses on his right leg was in memory of his daughter. I asked what had happened, expecting a tragic car wreck, or perhaps cancer or a drug overdose. He cheerfully explained she had died of cystic fibrosis at age 21, a year after a lung transplant.
My eyes started to water. My patient was upbeat and said she had lived with gusto and survived long enough to buy him a triple gin and tonic at bar. She had always had a bright outlook, despite her debilitating and eventually fatal disease.
I had to ask more about the memorial tattoo. He explained that her initials were linked with his at the bottom of the bouquet of many, many roses. “Why roses?” I asked. “Well,” he said, “when she was little, she could not pronounce cystic fibrosis, so she always said, ‘My daddy says I have 65 roses.’ ”*
Oh boy. I had to go sit in my office, turn out the lights, and cry.
Dr. Coldiron is in private practice but maintains a clinical assistant professorship at the University of Cincinnati. He cares for patients, teaches medical students and residents, and has several active clinical research projects. Dr. Coldiron is the author of more than 80 scientific letters, papers, and several book chapters, and he speaks frequently on a variety of topics. He is a past president of the American Academy of Dermatology. Write to him at dermnews@mdedge.com.
* This is in fact, what many children with the disease call it, and is the symbol of the Cystic Fibrosis Foundation, a story originating in 1965, when a 4-year-old with cystic fibrosis asked his mother about “65 Roses” after he heard her talking on the phone raising funds for research.