History of Sickle Cell Disease

1910

First Reported Case of Sickle Cell Anemia. Herrick provides the first formal description of sickle cell anemia when he reports that the blood smear of a dental student at the Chicago College of Dental Surgery contains "pear-shaped and elongated forms."

1927

Hypoxia Promotes Sickling. Hahn and Gillespie associate the sickling of red blood cells with low oxygen conditions.

1940

Sickle Red Blood Cell Observed in Microscope. Sherman reports that the sickling of red blood cells in the absence of oxygen is caused by a change in the hemoglobin molecule structure.

1948

Janet Watson suggests that the presence of fetal hemoglobin in the red blood cells of sickle cell newborns is the reason they do not show disease symptoms.

1949

Abnormal Sickle Protein Discovered. Noted physical chemist Linus Pauling and associates publish "Sickle Cell Anemia, a Molecular Disease" in Science. This paper explains how protein electrophoresis was used to show that sickle cell hemoglobin differed in structure from normal hemoglobin. This was the first time that the cause of a disease was linked to a change in protein structure.

1956

Sickle Protein Defined. Vernon Ingram and J.A. Hunt sequenced sickle hemoglobin and showed that a glutamic acid at position 6 was replaced by a valine in sickle hemoglobin. Using the known information about amino acids and codons that coded for them, he was able to predict the mutation in sickle cell anemia. This made sickle cell anemia the first genetic disorder whose molecular basis was known.

1977

Sickle Cell Mutation Discovered in DNA. Walter Gilbert and Frederick Sanger, in 1977, working separately in the United States and England, developed new techniques for rapid DNA sequencing. This led to the identification of the mutation in the beta globin gene.

1978

Hemoglobin Genetic Maps. Flavell prepares DNA maps of the human beta and delta globin genes.

1984

A Bone Marrow Transplant Cure. A bone marrow transplant in a child with sickle cell disease produced the first reported cure of the disease. The transplantation was done to treat acute leukemia. The child's sickle cell disease was cured as a secondary event. The procedure nonetheless set the precedence for later transplantation efforts directed specifically at sickle cell disease.

1995

Multicenter Study of Hydroxyurea in Sickle Cell Anemia. Dr. Charache reports that the anticancer drug hydroxyurea is the first to reduce the frequent, painful complications that characterize sickle cell disease.

1998

FDA Approves Hydroxyurea. Hydroxyurea became the first drug proven to prevent complications of sickle cell disease. Based on results of the Multicenter Study, the Food and Drug Administration approved hydroxyurea as the only drug indicated for treated complications in sickle cell anemia.

2001

Established Sickle Cell Disease Research Center. Collaboration of research and treatment of sickle cell disease between The University of Texas at Dallas and the University of Texas Southwestern Medical Center at Dallas.

2002

HRSA Awards Grants to Enhance Services for Newborns with Sickle Cell Disease. The Health Resources and Services Administration supports research to improve services for newborns with sickle cell disease, coordinate women’s health activities, and screen pregnant women for alcohol use.

2003

The Human Genome Project. Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. The project was completed in April 2003. The project goals were to 1) identify all the approximately 20,000-25,000 genes in human DNA, 2) determine the sequences of the 3 billion chemical base pairs that make up human DNA, 3) store this information in databases, 4) improve tools for data analysis, 5) transfer related technologies to the private sector, and 6) address ethical, legal, and social issues that arise from the project.

2004

Sickle Cell Disease stamp unveiled by U.S. Postal Service.  The U.S. Postal Service unveiled the Sickle Cell Disease Awareness Commemorative stamp in September 2004 at the 31st annual convention of the Sickle Cell Disease Association of America Inc. The Sickle Cell Disease Awareness stamp was used to increase public awareness of sickle cell disease.

2006

Exjade for Iron Chelation Therapy. The Food and Drug Administration advisory committee unanimously voted to approve for patient use the oral iron chelator EXJADE. The primary role of iron-chelation therapy is to prevent premature death from heart attack due to myocardial iron overload.

Sickle Cell Disease Clinical Research Network. The purpose was to establish a Clinical Research Network (CRN) of up to 15 clinical centers to design and perform multiple therapeutic trials for treatment of patients with sickle cell disease and to establish a Data Coordinating Center for the network. The National Heart Lung and Blood Institute committed funds over a 5 year period to support the CRN.

Sickle Cell Treatment Demonstration Project.  Senators Talent, Schumer and Burr provided support during African American Health Month by authoring a letter requesting funding in the FY07 Labor/H Appropriations bill to create 40 treatment centers to provide medical treatment and education services for patients living with sickle cell disease. Several Senators signed the letter by April 2006 requesting the funding to support the program.

2007

Treatment of Sickle Cell Anemia Mouse Model with iPS Cells Generated from Autologous Skin. Researchers from the Whitehead Institute for Biomedical Research in Cambridge, Mass. and Kyoto University in Japan used an innovative new method to reprogram adult cells to an "embryonic-stem-cell-like" state, and successfully cured mice with sickle-cell anemia

Sickle Cell Disease Summit. From clinical and research disparity to action. The American Society of Pediatric Hematology/Oncology Sickle Cell Summit was sponsored in June 2007.  They brought together constituencies to identify a unified approach to healthcare and research disparities for sickle cell disease. Recommendations included the following: (1) speak with a unified voice representing all constituencies; (2) optimize access to care from knowledgeable health care providers and create a medical home for all individuals with the disease; (3) utilize population-based surveillance to measure outcomes; (4) develop overall approaches to basic, translational, clinical, and health services research; (5) enhance the community role in advocacy, education, service, and fundraising. Findings were published recently (Am. J. Hematol 84:39-45.2009).

2008

Hydroxyurea Consensus Conference. Panel of experts find hydroxyurea underutilized in sickle cell disease. Fourteen experts performed a systematic literature review through the Agency for Healthcare Research and John Hopkins. They made the following major recommendations -hydroxyurea use should be increased in adolescents and adults with sickle cell disease and increased medicaid coverage of sickle cell patients of all ages should be instituted. http://www.ahrq.gov/clinic/tp/hydscdtp.htm.

Renaissance of Sickle Cell Disease Research in the Genome Era. This book offers a comprehensive and timeless account of emerging concepts in clinical and basic science research, and community concerns of health disparity to educate professionals, students and the general public about meeting this challenging expectation. Contributions from physicians, research scientists, scientific administrators and community workers make this textbook unique among books on genetic disorders. Edited by Betty S. Pace, MD.

Gene Therapy Corrects Sickle Cell Disease In Laboratory Study. Using a harmless virus to insert a corrective gene into mouse blood cells, scientists at St. Jude Children's Research Hospital have alleviated sickle cell disease pathology. Treated mice showed essentially no difference from normal mice. The scientists believe that the new therapy will become an important treatment for sickle cell disease.

2009

Rare Athlete Deaths Spur Sickle Cell Trait Testing. Thousands of families carry the gene that causes sickle cell disease and don't know it. Spurred in part by rare but tragic collapses of athletes from overexertion, work is beginning to find families missed by newborn screening. In late June, the National College Athletic Association recommended that colleges and universities test student-athletes. The move helped settle a lawsuit of a 19-year-old freshman football player at Rice University, Dale Lloyd II, who died from sickle cell trait complications during a conditioning workout in September 2006.