Dr. Jessé Santiago Acioly Lins was only 25 when he announced that he had identified the mechanisms of genetic inheritance of sickle cell anemia. The disease, more common among descendants of Africans, causes red blood cells (erythrocytes) to take the shape of a sickle. These erythrocytes do not live as long as normal round erythrocytes and thus compromise the distribution of oxygen throughout the body, causing fever and muscle pain. The discovery occurred in 1946 as a result of observing people with the disease in Salvador, state of Bahia, and studying the laws of classic genetics applied to the distribution of genes responsible for producing one of the structural variants of hemoglobin, the protein responsible for carrying oxygen and giving blood its red color. Ahead of colleagues from developed countries, the physician concluded that sickle cell anemia was an autosomal recessive disease, which means that both the father and the mother must pass on the defective form of the gene for a child to be affected.
Sickle cell anemia was first described by US physician James Herrick in 1910, from blood samples taken from an individual from the Island of Granada in the Caribbean. In the early 1940s however the disease we still relatively unknown by Brazilian doctors and researchers, with the exception of some hematologists. Attention at that time was being paid to disease that had much higher social impact such as cancer and tuberculosis. Gradually, the disease escaped anonymity and became a public health issue, the subject of increasing discussion and study, especially in light of the ethnic diversity and intense miscegenation of Brazil’s population.
Born in Porto Calvo, state of Alagoas, Jessé Acioly (1921-1996), as he became known, was a student in his fifth year at the School of Medicine of Bahia when in 1947 he presented his ideas in a 29-page article published in a local journal called Arquivos da Universidade da Bahia, also known as Tertúlias Acadêmicas. On the basis of work by Austrian monk Gregor Mendel (1822-1884) regarding the transmission of characteristics of peas, Acioly conducted a detailed study of the disease, discussing its elevated incidence in Brazil and possible forms of treatment. “The study was very well done and proved through the use of a genogram [representation of a person’s family relationship] that the disease was passed on through autosomal recessive inheritance,” says geneticist Eliane Azevedo, professor emeritus at the School of Medicine of the Federal University of Bahia (FM-UFBA) and university president from 1992 to 1993. “It was an unprecedented breakthrough on the mechanisms of inheritance for a disease that was at the forefront of research studies in more developed countries.”
Despite its significance, the work remained almost completely ignored. “The fact that it was published in Portuguese in a journal with local circulation that few researchers had ever heard of certainly contributed to this,” says biomedical researcher Magnun Nueldo Nunes dos Santos, a professor of hematology at the School of Medical Sciences of the University of Campinas (FCM-Unicamp). In 1947, in the laboratories of the heredity clinic at the University of Michigan, geneticist James Neel came to the same conclusions as Acioly, and published them in the prestigious journal Medicine.
The study had a huge repercussion among experts at the time and Neel became known as the first to have identified the mechanisms for inheriting the disease. It was up to Eliane Azevedo, 27 years later, to claim that Acioly was first in discovering the mechanisms for genetic inheritance of the disease. In 1969, in an informal conversation at the Medical Genetics Laboratory of the Hospital das Clínicas of FM-UFBA, Acioly showed her a copy of his research published in 1947. “I realized that the article described the mechanism for inheriting sickle cell disease for the first time in the scientific literature,” she says. At the time, geneticists all over the world had attributed the discovery to James Neel alone.
Azevedo then prepared a summary of the article in English and sent it to the editor of the journal American Journal of Human Genetics. Her comments were published in 1973 and Acioly’s ideas became known. Months later, at the request of the hematology service of the University of Wisconsin, Azevedo translated the entire article and sent it to the university where Neel worked. From that point on, Acioly, along with Neel, began to be considered responsible for identification of the mechanism of genetic inheritance of the disease. This was Acioly’s first and only study in the field of genetics. His interest at that time had been directed to clinical hematology. By the early 1960s, however, the physician had moved to Spain where he specialized in psychiatry, the field in which he continued his career.Republish