Understanding sickle cell disease understanding health and. This book explores the discovery of how a single mutation in hemoglobin multiplies into the many symptoms of sickle cell anemia. Learn sickle genetics with free interactive flashcards. Sickle cell disease by phill jones, hardcover barnes. Sickle cell anemia is a genetic disorder resulting in irregularly regulating red blood cells also called as sickled cells leading to serious conditions like stroke, acute chest syndrome, pulmonary hypertension, organ damage, blindness and skin ulcers. Without treatment, these individuals have a shorter life span and one might imagine from an evolutionary standpoint that such a lifethreatening genetic change would be rare, as it affects survival. There is a one in two 50% chance that any given child will get one copy of the hbas gene and therefore have the sickle cell trait. Anemia, sickle cell genes and disease ncbi bookshelf. Arogundade, in comprehensive clinical nephrology fourth edition, 2010. Sickle cell disease can be identified before birth by testing a sample of amniotic fluid or tissue from the placenta. Sickle cell anemia medical diagnostic laboratories llc. Sickle cell anemia is generally found in people of african descent.
The publisher has taken reasonable care in the preparation of this book, but makes. Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People who carry the sickle cell gene can seek genetic counseling before pregnancy to discuss options. In this example, two unaffected parents each carry one copy of a gene mutation for. List of books and articles about sickle cell disease online. Rods placed in both arms and legs show video treatment. Another example of incomplete dominance is sickle cell anemia, a disease in which the hemoglobin protein is produced incorrectly and the red blood cells have a sickle shape. Patients with sickle cell anemia homozygous to hbs gene have hbs instead of. This book has a lot of information about dna genetics for kids and illustrations. Lisa mullan describes sickle cell anaemia to readers from 912 years of age with the help of a likable character, alina. A colorful educational book about sickle cell anemia sickle cell anemia.
The sequence below shows a part of the genetic code for the hbb gene. Sickle cell anemia sca is a disease that is caused by the formation of an abnormal hemoglobin type, which can bind with other abnormal hemoglobin molecules within the red blood cells rbcs to. This book is a wideranging guide to the diagnosis and management of the numerous medical and surgical complications that may arise in patients with sickle cell anemia. It is perhaps the best understood singlegene condition, due to a substitution of a single dna base in the gene that encodes the beta subunit of hemoglobin, the protein that carries oxygen in the blood. Inheritance of sickle cell disease if one parent has sickle cell trait hbas and the other does not carry the sickle hemoglobin at all hbaa then none of the children will have sickle cell anemia. Infection may occur due to the spleen not working properly. Sickle cell disease scd is a perfect candidate for gene editing. The genetic disorder is also found in people whose families come from south or central america especially panama, the caribbean islands, mediterranean countries like turkey, greece, italy, india, and saudi arabia.
Summary example holism in anthropology, sickle cell. Sickle cell health politics and biological difference in west africa by. Several mutations in hbb gene can cause sickle cell disease. Sickle cell diseasegenetics, pathophysiology, clinical. A sicklecell safari 1 how did tony allisons early life experiences in kenya prepare him to make the discovery of the sickle cellmalaria link. Tony allisons early life experiences in kenya prepared him to make the discovery of the sickle cellmalaria link because at a young age, tony himself caught malaria. 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.
List of books and articles about sickle cell disease. Sickle cell anemia sca is a disease that is caused by the formation of an abnormal. Sickle cell anemia and the politics of race and health. Inheritance of sickle genes from parents with sickle cell trait.
If one parent is a carrier of the hbb hbs pathogenic variant and the. After introductory chapters on the genetics, pathophysiology, clinical features, and variants of sickle cell anemia, the. Omim 603903 is a genetic disease autosomal recessive affecting hemoglobin, the oxygentransporting protein in red blood cells. Health scientists study the information collected by the sickle cell data collection scdc program. Sicklecell disease is an autosomal recessive genetic blood disorder in which red blood cells assume a rigid sickle shape. Although sickle cell anemia was the first molecular disease to be identified, its complex and fascinating pathophysiology is still not fully understood. For the first time scientists have corrected sickle cell disease in mice using gene therapy, according to a study supported by the national heart, lung, and blood institute nhlbi of the national. Symptomatically, this disorder was known for quite some time in africa before it was recognized in the western hemisphere, with reports dating back to 1670 in ghana 1. They will also each have around 1 in 2 chance for having sickle cell trait and a 1 in 4 chance for not having either. People with this disorder have atypical hemoglobin molecules called hemoglobin s, which can distort red blood cells into a sickle, or crescent, shape signs and symptoms of sickle cell disease usually begin in early childhood. Sickle cell disease scd is a group of inherited red blood cell disorders.
Sickle cell disease scd is a monogenetic disorder due to a single basepair point. Individuals who inherit two copies of the sickle mutation one from mom and the other from dad develop sickle cell anemia. Scientists use gene therapy to correct sickle cell disease. Sickle cell disease scd is characterized by intermittent vasoocclusive events and chronic hemolytic anemia. The structure of human hemoglobin changes between fetal and adult life. Sickle cell disease comprises a group of heterogenous disorders that share the presence of the gene for hbs, either homozygous i. 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 a disease in which the body produces abnormally shaped red blood cells. The holistic approach of anthropology allows us to understand sickle cell anemia through a wide range of disciplines including archaeological research on sites in west africa, the genetics of humans, plasmodium parasites, and mosquitoes, racism in the us, and even mixology. Sickle cell disease scd is a genetic disorder caused by an abnormality. This mutation of blood hemoglobin is considered good because people who have it and survive it are more resistant to the disease malaria. Medical and surgical complications of sickle cell anemia. Sickle cell is a disease where a person has abnormally shaped blood cells. In fact, 1 in 12 african americans carry the sickle cell trait.
Discover librarianselected research resources on sickle cell disease from the questia online library, including fulltext online books, academic. Signs and symptoms of sickle cell disease can be mild or severe enough to require frequent hospitalizations. Ironically, the primary textbook example of a good mutation is one that causes the disease sickle cell anemia. Red blood cells are normally flexible and round, but when the hemoglobin is defective, blood cells take. Sickled red blood cells get trapped in the spleen causing damage. Sicklecell disease an overview sciencedirect topics. As shown in the graphic, the couple has one chance in four that the child will be normal, one chance in four that the child will have sickle cell disease, and one chance in two that the child will have sickle cell trait.
Dactylitis pain andor swelling of the hands or feet in infants and. I think what you might be really getting at is whether someone can inherit sickle cell trait from a white mother who has sickle cell trait and rh blood and the short answer to this question is yes they can. Sickle cell anemia genetic and rare diseases information. Each of their kids should have around a 1 in 4 chance for getting sickle cell anemia. A person that is homozygous recessive for the sickle cell trait will have red blood cells that all have the incorrect hemoglobin. Sickle cell anemia from basic science to clinical practice. This gene provides the instructions for making a protein called betaglobin. Choose from 162 different sets of sickle genetics flashcards on quizlet. 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. Sickle cell disease was one of the first diseases to be explained at the molecular level.
In the years since the first edition of this book was published, further advances have been made, and much has been learned about the causes of variability in the natural history of the disease and of the reasons why there are such distinct variations in the patterns of morbidity and mortality. Sca is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood. Sickle cell disease scd is a monogenetic disorder due to a single basepair point mutation in the. Understanding sickle cell disease and millions of other books are available for. Educators guide to sickle cell and school anemia is a lower number of red blood cells oxygen carrying cells in the body. A single mutation in the betaglobin gene incurs numerous molecular and. Sickle cell anemia is the most common inherited blood disorder in the united states, affecting about 72000 americans or 1 in 500 african americans. The reason for the abnormal shape of blood lies in the underlying genetic code. I think the information could have been written in a more kidfriendly way. The book investigates treatments that help individuals manage symptoms and examines how, one day, gene therapy and stem cell. As long ago as 1949, pauling et al described sickle cell anemia as a molecular disease, 1 with two other groups convincingly describing it as an inherited disorder. Sickle cell anemia is inherited in a mendelian recessive fashion. All the human hemoglobins consist of two different pairs of peptide chains called globin chains, each of which is attached to the oxygen carrying moiety, heme.
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