Samuel Charache (January 12, 1930 – January 29, 2019) was an American hematologist and professor at Johns Hopkins University. He led the research team that discovered the first effective treatment for sickle cell disease, a painful and sometimes fatal blood disorder that mainly affects people of African ancestry.
Johns Hopkins University is a private research university in Baltimore, Maryland. Founded in 1876, the university was named for its first benefactor, the American entrepreneur, abolitionist, and philanthropist Johns Hopkins. His $7 million bequest —of which half financed the establishment of Johns Hopkins Hospital—was the largest philanthropic gift in the history of the United States up to that time. Daniel Coit Gilman, who was inaugurated as the institution's first president on February 22, 1876, led the university to revolutionize higher education in the U.S. by integrating teaching and research. Adopting the concept of a graduate school from Germany's ancient Heidelberg University, Johns Hopkins University is considered the first research university in the United States. Over the course of several decades, the university has led all U.S. universities in annual research and development expenditures. In fiscal year 2016, Johns Hopkins spent nearly $2.5 billion on research.
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain, anemia, swelling in the hands and feet, bacterial infections and stroke. Long-term pain may develop as people get older. The average life expectancy in the developed world is 40 to 60 years.
He received his bachelor's degree from Oberlin College in 1951 and his M.D. degree from New York University School of Medicine in 1955. He joined the Johns Hopkins faculty in 1966 and became director of the hematology department of Johns Hopkins Hospital in 1969. He was a professor in the departments of both pathology and medicine, retiring in 1995.
Oberlin College is a private liberal arts college and conservatory of music in Oberlin, Ohio. It is the oldest coeducational liberal arts college in the United States and the second oldest continuously operating coeducational institute of higher learning in the world. The Oberlin Conservatory of Music is the oldest continuously operating conservatory in the United States. In 1835 Oberlin became one of the first colleges in the United States to admit African Americans, and in 1837 the first to admit women. Today, it its known for its progressive student activism.
The New York University School of Medicine is the medical school of New York University. Founded in 1841 as the University Medical College, the NYU School of Medicine is one of the foremost medical schools in the United States, ranking 9th in research according to U.S. News & World Report. As of 2017, it is one of the most selective medical schools in the United States, with an acceptance rate of 1.6%. In 2014, New York University School of Medicine attracted over $304.5 million in external research funding from the National Institutes of Health alone.
The Johns Hopkins Hospital (JHH) is the teaching hospital and biomedical research facility of the Johns Hopkins School of Medicine, located in Baltimore, Maryland, U.S. It was founded in 1889 using money from a bequest of over $7 million by city merchant, banker/financier, civic leader and philanthropist Johns Hopkins (1795-1873). Johns Hopkins Hospital and its school of medicine are considered to be the founding institutions of modern American medicine and the birthplace of numerous famous medical traditions including rounds, residents and house staff. Many medical specialties were formed at the hospital including neurosurgery, by Dr. Harvey Cushing; cardiac surgery by Dr. Alfred Blalock; and child psychiatry, by Dr. Leo Kanner.
He is best known for his discovery of a treatment for sickle cell disease, a hereditary blood disorder that affects more than 70,000 people in the United States, primarily African Americans.The disease gets its name from its effect on red blood cells, which become distorted from their normal round shape into pointed, sickle-shaped cells due to a mutation affecting hemoglobin A, the main form of hemoglobin in adults. When cells sickle they can cause recurrent episodes of acute pain that often require hospitalization, transfusions, and strong pain medication. There is no cure. In the early 1980s a team led by Charache began testing a few patients at Hopkins to see if hydroxyurea, a cancer drug, would help to abate the symptoms of the disease. They found that hydroxyurea treatment could increase recipients' blood levels of hemoglobin F, a form of hemoglobin primarily made by the fetus (and normally only at low levels in adults) that is not affected by the sickle cell mutation.
African Americans are an ethnic group of Americans with total or partial ancestry from any of the black racial groups of Africa. The term typically refers to descendants of enslaved black people who are from the United States.
Hemoglobin A (HbA), also known as adult hemoglobin, hemoglobin A1 or α2β2, is the most common human hemoglobin tetramer, accounting for over 97% of the total red blood cell hemoglobin. Hemoglobin is an oxygen-binding protein, found in erythrocytes, which transports oxygen from the lungs to the tissues. Hemoglobin A is the most common adult form of hemoglobin and exists as a tetramer containing two alpha subunits and two beta subunits (α2β2). Hemaglobin A2 (HbA2) is a less common adult form of hemoglobin and is composed of two alpha and two delta-globin subunits. This hemoglobin makes up 1-3% of hemoglobin in adults.
A fetus or foetus is the unborn offspring of an animal that develops from an embryo. Following embryonic development the fetal stage of development takes place. In human prenatal development, fetal development begins from the ninth week after fertilisation and continues until birth. Prenatal development is a continuum, with no clear defining feature distinguishing an embryo from a fetus. However, a fetus is characterized by the presence of all the major body organs, though they will not yet be fully developed and functional and some not yet situated in their final anatomical location.
The results were encouraging, so in the 1990s he and a colleague, pediatrician George Dover, who had been researching sickle cell disease for 20 years, launched a controlled clinical trial.The result was such a dramatic improvement in the condition of the test group that the trial was halted early, so that the control subjects (those receiving a placebo) could benefit from the treatment. Subsequent investigation of the beneficial effects hydroxyurea in people with sickle cell disease has revealed multiple mechanisms (including suppression of inflammatory white blood cells and platelets), but increased levels of hemoglobin F are still thought to play a significant part.
A placebo is an inert substance or treatment which is designed to have no therapeutic value. Common placebos include inert tablets, inert injections, sham surgery, and other procedures.
While still an undergraduate at Oberlin he met and married Patricia Connamacher Charache. She became a noted physician, served on the Hopkins faculty for more than 50 years, and retired as a Distinguished Professor Emeritus of Pathology, Medicine, and Oncology.They were married for 64 years until her death in 2015, and had one child. He died January 29, 2019 at the age of 89.
Patricia Charache was a physician specializing in infectious disease and microbiology. She was a faculty member at the Johns Hopkins University School of Medicine for more than 50 years, retiring as a Distinguished Professor Emeritus of Pathology, Medicine, and Oncology.
Hemolysis or haemolysis, also known by several other names, is the rupturing (lysis) of red blood cells (erythrocytes) and the release of their contents (cytoplasm) into surrounding fluid. Hemolysis may occur in vivo or in vitro.
Anemia is a decrease in the total amount of red blood cells (RBCs) or hemoglobin in the blood, or a lowered ability of the blood to carry oxygen. When anemia comes on slowly, the symptoms are often vague and may include feeling tired, weakness, shortness of breath, and a poor ability to exercise. When the anemia comes on quickly, symptoms may include confusion, feeling like one is going to pass out, loss of consciousness, and increased thirst. Anemia must be significant before a person becomes noticeably pale. Additional symptoms may occur depending on the underlying cause.
A complete blood count (CBC) is a blood panel requested by a doctor or other medical professional that gives information about the cells in a patient's blood, such as the cell count for each blood cell type and the concentrations of hemoglobin. A scientist or lab technician performs the requested testing and provides the requesting medical professional with the results of the CBC.
Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia. Anemia can result in feeling tired and pale skin. There may also be bone problems, an enlarged spleen, yellowish skin, and dark urine. Slow growth may occur in children.
Hemolytic anemia is a form of anemia due to hemolysis, the abnormal breakdown of red blood cells (RBCs), either in the blood vessels or elsewhere in the human body. It has numerous possible consequences, ranging from relatively harmless to life-threatening. The general classification of hemolytic anemia is either inherited or acquired. Treatment depends on the cause and nature of the breakdown.
Fetal hemoglobin, or foetal haemoglobin, is the main oxygen transport protein in the human fetus during the last seven months of development in the uterus and persists in the newborn until roughly 2-4 months old. Functionally, fetal hemoglobin differs most from adult hemoglobin in that it is able to bind oxygen with greater affinity than the adult form, giving the developing fetus better access to oxygen from the mother's bloodstream.
Hydroxycarbamide, also known as hydroxyurea, is a medication used in sickle-cell disease, chronic myelogenous leukemia, cervical cancer, and polycythemia vera. In sickle-cell disease it increases hemoglobin and decreases the number of attacks. It is taken by mouth.
Beta thalassemias are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated at one in 100,000. Beta thalassemias are caused by mutations in the HBB gene on chromosome 11, inherited in an autosomal recessive fashion. The severity of the disease depends on the nature of the mutation.
An exchange transfusion is a blood transfusion in which the patient's blood or components of it are exchanged with other blood or blood products. The patient's blood is removed and replaced by donated blood or blood components. This exchange transfusion can be performed manually or using a machine (apheresis).
The acute chest syndrome is a vaso-occlusive crisis of the pulmonary vasculature commonly seen in people with sickle cell anemia. This condition commonly manifests with a new opacification of the lung(s) on a chest x-ray.
A vaso-occlusive crisis is a common painful complication of sickle cell anemia in adolescents and adults. It is a form of sickle cell crisis. Sickle cell anemia – most common in those of African, Hispanic, and Mediterranean origin – leads to sickle cell crisis when the circulation of blood vessels is obstructed by sickled red blood cells, causing ischemic injuries. The most common complaint is of pain, and recurrent episodes may cause irreversible organ damage. One of the most severe forms is the acute chest syndrome which occurs as a result of infarction of the lung parenchyma. This can rapidly result in death. Other types of vaso-occlusive crisis in sickle cell anemia include dactylitis, priapism, abdominal pain, and jaundice.
1)Full blood count to check for Hemoglobin levels and
2) Rapid diagnostic test (RDT) for Malaria to be able to rule out malaria in the patient
Congenital dyserythropoietic anemia (CDA) is a rare blood disorder, similar to the thalassemias. CDA is one of many types of anemia, characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.
Red blood cells (erythrocytes) from donors contain normal hemoglobin (HbA), and transfusion of normal red blood cells into people with sickle cell disease reduces the percentage of red cells in the circulation containing the abnormal hemoglobin (HbS). Although transfusion of donor red blood cells can ameliorate and even prevent complications of sickle cell disease in certain circumstances, transfusion therapy is not universally beneficial in sickle cell disease.
Carroll Lockard "Lock" Conley was a hematologist and founder of the Division of Hematology at the Johns Hopkins School of Medicine.
Zynteglo is an treatment for beta thalassemia, a rare and potentially debilitating blood disorder. It has been developed by Bluebird Bio and was given “breakthrough therapy” designation by the Food and Drug Administration in February, 2015. It was approved by EMA in 2019.
Griffin P. Rodgers is the director of the National Institute of Diabetes and Digestive and Kidney Diseases, one of the 27 institutes that make up the United States National Institutes of Health. He is also the Chief of the institute's Molecular and Clinical Hematology Branch and is known for contributions to research and therapy for sickle cell anemia.
Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease.
Hemoglobin Hopkins-2 is a mutation of the protein hemoglobin, which is responsible for the transportation of oxygen through the blood from the lungs to the musculature of the body in vertebrates. The specific mutation in Hemoglobin Hopkins-2 results in two abnormal α chains. The mutation is the result of histidine 112 being replaced with aspartic acid in the protein's polypeptide sequence. Additionally, within one of the mutated alpha chains, there are substitutes at 114 and 118, two points on the amino acid chain. This mutation can cause sickle cell anemia.
Anemia in pregnancy is a decrease in the total red blood cells (RBCs) or hemoglobin in the blood during pregnancy or in the period following pregnancy. It involves a reduction in the oxygen carrying capacity of the blood. Anemia is an extremely common condition in pregnancy and postpartum world-wide, conferring a number of health risks to mother and child. Maternal signs and symptoms are usually non-specific, but can include: fatigue, pallor, dyspnea, palpitations and dizziness. There are numerous well-known maternal consequences of anemia including: maternal cardiovascular strain, reduced physical and mental performance, reduced peripartum blood reserves, increased risk for peripartum blood product transfusion, and increased risk for maternal mortality.
The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1870s, and is now part of the United States Department of Health and Human Services. The majority of NIH facilities are located in Bethesda, Maryland. The NIH conducts its own scientific research through its Intramural Research Program (IRP) and provides major biomedical research funding to non-NIH research facilities through its Extramural Research Program.