Sickle Cell Anemia
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What is sickle cell anemia?
Sickle cell anemia is an inherited disorder that affects hemoglobin, a protein that enables red blood cells to carry oxygen to all parts of the body. The disorder produces abnormal hemoglobin, which causes the red blood cells to sickle or become crescent-shaped.
Sickle cell anemia is characterized by a low number of red blood cells (anemia), infection, and periodic episodes of pain, usually beginning in early childhood. Symptoms vary from person to person; some people have mild symptoms, while others are frequently hospitalized.
With this disorder, sickle-shaped red blood cells are destroyed rapidly, causing anemia. Anemia can lead to shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Other symptoms of sickle cell anemia occur when the stiff, inflexible sickled red blood cells get stuck in small blood vessels, depriving organs and tissues of oxygen-rich blood. A serious complication of sickle cell anemia is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.
How common is sickle cell anemia?
Sickle cell anemia affects millions of people worldwide. It is particularly common among people whose ancestors come from Africa, Mediterranean countries (such as Greece, Turkey, and Italy), the Arabian peninsula, India, and Spanish-speaking regions (South America, Central America, and parts of the Caribbean).
Sickle cell anemia is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans. The disease occurs in approximately 1 in 500 African-American newborns and 1 in 1,000 to 1,400 Hispanic-American births.
What genes are related to sickle cell anemia?
Mutations in the HBB gene cause sickle cell anemia.
The HBB gene produces one of the subunits of hemoglobin, called beta hemoglobin or the beta chain. A mutation in the HBB gene produces an abnormal version of beta hemoglobin known as hemoglobin S (HbS). Hemoglobin S can distort red blood cells into a sickle or crescent shape. The sickle-shaped red blood cells die prematurely, which can lead to anemia. Sometimes the inflexible, sickle-shaped cells get stuck in small blood vessels and can cause serious medical complications.
How do people inherit sickle cell anemia?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Source: National Institutes of Health
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The American Society of Hematology Announces New Honorific Award
2009 JUL 27 - (NewsRx.com) -- The American Society of Hematology (ASH) announces the debut of the Ernest Beutler Lecture and Prize, to be awarded at ASH's annual meeting in December. The inaugural recipients are Thomas Maniatis, PhD, of Harvard University, and Yuet Wai Kan, MD, of the University of California - San Francisco. Established in December 2008, this award, named for the late Dr. Ernest Beutler, past president of ASH and physician-scientist for over 50 years, is a two-part lectureship intended to recognize major translational advances related to a single topic. This award honors two individuals, one who has enabled advances in basic science and another individual for achievements in clinical science or translational research. Both of this year's recipients have made seminal contributions to our understanding of the biology and diagnosis of thalassemia, with specific attention paid to the impact of molecular genetic studies of globin genes on the diagnosis and treatment of the disease. Dr. Kan, past ASH President and prior recipient of the Dameshek Prize and Stratton Medal for his pioneering work involving the use of fetal DNA to diagnose sickle cell anemia and thalassemia, will discuss the development of prenatal and DNA diagnosis for thalassemia, reviewing current and experimental treatments, and the impact of stem cell technology on future therapy. Dr. Maniatis, of Harvard University, will discuss the development of prenatal and DNA diagnosis for thalassemia, reviewing current and experimental treatments and the impact of stem cell technology on future therapy. The Ernest Beutler Lecture will take place on Monday, December 7th from 12:30 to 1:30 p.m. in New Orleans, LA. For more information, please visit the 51st ASH Annual Meeting Web site. To arrange an interview with an award recipient, please contact Patrick C. Irelan, ASH Communications Assistant, at 202-776-0544 or pirelan@hematology.org. The American Society of Hematology (www.hematology.org) is the world's largest professional society concerned with the causes and treatment of blood disorders. Its mission is to further the understanding, diagnosis, treatment, and prevention of disorders affecting blood, bone marrow, and the immunologic, hemostatic, and vascular systems, by promoting research, clinical care, education, training, and advocacy in hematology. In late 2008, ASH launched Blood: The Vital Connection (www.bloodthevitalconnection.org), a credible online resource addressing bleeding and clotting disorders, anemia, and cancer. It provides hematologist-approved information about these common blood conditions including risk factors, preventive measures, and treatment options. Keywords: Clinical Science, DNA, Experimental Treatment, Genetics, Hematology, Sickle Cell Anemia, Sickle Cell Disease, Stem Cell Research, Thalassemia, American Society of Hematology. This article was prepared by Hematology Week editors from staff and other reports. Copyright 2009, Hematology Week via NewsRx.com.
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