This hemoglobins crystallizes in small capillaries, where the concentration of oxygen in the blood is low but sufficient for normal hemoglobin, causing the red blood cells to assume distorted, sicklelike shapes. Sickle cell disease nord national organization for rare. These are the sources and citations used to research sickle cell disease research bibliography. To confirm the diagnosis, a sample of blood is examined under a microscope to. Medlineplus was designed by the national library of medicine to help you research your health questions, and it provides more information about this topic. This bibliography was generated on cite this for me on thursday, may 5, 2016. When red blood cells sickle, they break down prematurely, which can lead to anemia. Vasoocclusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ in the body, including the bones, lungs, liver, kidneys, brain, eyes, and joints. Request pdf genetics and pathophysiology of sickle cell anemia the normal hemoglobin is made up of two parts, heme and protein.
Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. Genetics home reference provides consumerfriendly information about the effects of genetic variation on human health. Sickle cell disease genetics home reference nih sickle cell anemia a fictional sickle cell anemia is one of a group of disorders known as sickle cell disease. Choose from 162 different sets of sickle genetics flashcards on quizlet. In diamondblackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells, which carry oxygen to the bodys tissues. Genetics home reference ghr is a webba sed resource for consumers that provides information about genetic conditions and the gene or chrom osome variatio ns that contribute to those conditions. List of books and articles about sickle cell disease. Sickle cell anemia a fictional reconstruction answer key. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Health conditions learn about the signs and symptoms, causes, and inheritance of more than 1,300 health conditions with a genetic basis. Sca is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood. Learn sickle genetics with free interactive flashcards. Sickle cell anemia is the most common inherited blood disorder in the united states, affecting about 72,000 americans or 1 in 500 african americans.
Sickle cell anemia is caused by a mutation in the gene that tells your body to make the ironrich compound that makes blood red and enables red blood cells to carry oxygen from your lungs throughout your body hemoglobin. The protein is made up of four polypeptide chains fig. Sickle cell anemia is an inherited red blood cell disorder in which there arent enough healthy red blood cells to carry oxygen throughout your body. The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. Anemia, sickle cell genes and disease ncbi bookshelf. Doctors diagnose sickle cell through a blood test that checks for hemoglobin s the defective form of hemoglobin. In this condition, hemoglobin s replaces both betaglobin subunits in hemoglobin.
Sickle cell anemia genetic and rare diseases information center. National library of medicine genetics home reference. Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the. Affected individuals also have a shortage of red blood cells anemia, which can cause pale skin, weakness, fatigue, and more serious. Sickle cell anemia, a common form of sickle cell disease, is caused by a particular mutation in the hbb gene. This mutation results in the production of an abnormal version of betaglobin called hemoglobin s or hbs. Sickle cell disease is caused by the presence of abnormal hemoglobin.
Diamondblackfan anemia genetics home reference nih. Genetics and pathophysiology of sickle cell anemia. Sickle cell anemia genetic and rare diseases information. In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen. Genetics home reference ghr contains information on sickle cell anemia. Sickle cell disease scd is characterized by intermittent vasoocclusive events and chronic hemolytic anemia.
16 1445 1253 1489 935 334 639 1335 97 13 95 1040 128 1465 942 864 1197 629 1496 266 18 183 906 91 659 1577 1426 1046 920 1475 135 1240 438 373 626 1095 583