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Gregg Selke, Ph.D. 11/28/06
What is Sickle Cell Anemia (SCA)?
First described in Chicago in 1910 by James Herrick as an inherited condition that results in a decrease in the ability of red blood cells to carry oxygen throughout the body
Sickle red blood cells become hard and irregularly shaped (resembling a sickle) Become clogged in the small blood vessels and therefore do not deliver oxygen to the tissues. Lack of tissue oxygenation can cause excruciating pain, damage to body organs and even death.
Red blood cells (RBC)
Contain a special protein called haemoglobin (Hb) Hb is the component that carries oxygen from the lungs to all parts of the body Most people have only hemoglobin type – Hb A within RBC (normal genotype: Hb AA)
Sickle Cell: HbS
S similar to A, but one structural change Other types: HbC, HbD, and HbE
Mechanism -HbS When sickle haemoglobin (HbS) gives up its oxygen to the tissues. instead blocks small blood vessels Less oxygen to tissues of body Normally 120 days Chronic state of anaemia RBCs containing HbS have a shorter lifespan . HbS sticks together Forms long rods form inside RBC RBC become rigid. inflexible. and sickle-shaped Unable to squeeze through small blood vessels.
Genetics 2 copies of the gene for Hb (each parent) HbS –Recessive S=Sickle A=Normal .
Pain when Less Oxygen than usual (scuba diving.Sickle Cell Trait Sickle haemoglobin (S) + Normal haemoglobin (A) in RBC Adequate amount of normal Hb (A) in red blood cells RBC remain flexible Carrier Do Not have the symptoms of the sickle cell disorders. Minute kidney problems . activities at high altitude (12. under general anaesthesia) 2.000ft). with 2 exceptions 1.
Sickle Cell Anemia Sickle haemoglobin (HbS) + Sickle haemoglobin (HbS) Most Severe – No HbA .Three common types of Sickle Cell Disorders 1.
Hemoglobin S-C disease Sickle haemoglobin (HbS) + (HbC) Beta thalassaemia gene reduces the amount of HbA that can be made Sickle haemoglobin (HbS) + reduced HbA Milder form of Sickle Cell Disorder than sickle cell anemia 3. Hemoglobin S-Beta thalassemia .Other Sickling Disorders Other types of Hb combine with sickle Hb 2.
children who inherited one sickle hemoglobin gene and who. A deadly form of malaria was very common at that time Malaria epidemics caused the death of many In areas where malaria was a problem.for sickle hemoglobin. and passed on the gene. the Mediterranean basin. . the Middle East. had their own children.had a survival advantage. carried the sickle cell trait . they survived the malaria epidemics they grew up. and India. Unlike the children who had normal hemoglobin genes.Some Genetic History The error in the hemoglobin gene results from a genetic mutation that occurred many thousands of years ago in people in parts of Africa. therefore.
Sickle Cell Gene Severe Malaria .
who may inherit two abnormal sickle hemoglobin genes and have sickle cell anemia. further into the Middle East and eventually into the Western Hemisphere.History As populations migrated. In the United States and other countries where malaria is not a problem. Instead. it may be a serious threat to the carrier's children. . the sickle hemoglobin gene no longer provides a survival advantage. the sickle cell-mutation spread to other Mediterranean areas.
Greece. . South and Central American. Southern Italy. India. Cuba. and Eastern Jews have also been found to have a form of this illness. Saudi Arabia. and Iran. East Asia. the Caribbean. Egypt.Who is at risk? Most common in Africans and African Americans.
000 or more Americans have sickle cell disease About 1.000 babies with sickle cell disease are born each year .5 million Americans have the trait 70.000 babies are born with the disease each year in America In Nigeria.Prevalence More than 2.S.. 1/3 population of U. 45.000-90.
SBeta-Thal) . SC.Among African .000 have Sickle Cell Disease (Hb SS. S-BetaThal) Among Latinos 1 in 172 have Sickle Cell Trait (Hb AS) 1 in 1. SC.Americans 1 in 12 have Sickle Cell Trait (Hb SA) 1 in 600 have Sickle Cell Anemia (Hb SS) 1 in 1500 have Sickle C Disease (Hb SC) 1 in 350 have Sickle Cell Disease (Hb SS.
Prenatal Testing Amniocentesis 16 and 18 weeks of the pregnancy small risk of causing a miscarriage (1 in 100) 9th or 10th week of pregnancy very small amount of material from the developing placenta slightly higher chance of miscarriage Chorionic villus sampling (CVS) . Haemoglobin Electrophoresis Simple Blood test Routine screening in high risk groups • During pregnancy • Before anaesthesia 2.Screening 1.
kidney. liver and spleen nosebleeds Frequent upper respiratory infections Chronic anemia as children grow older Over time Sickle Cell sufferers can experience damage to organs such as liver.Early Symptoms and Complications Typically appear during infant's first year 1st symptom: dactylitis and fever (6 mo-2 yrs) Pain in the chest. abdomen. heart and spleen Can result in death . lungs. limbs and joints Enlargement of the heart.
increased infections 4. low red blood cell counts (anemia) 14. early gallstones 8. bone damage 6.Medical Complications 1. delayed growth . yellow eyes or jaundice 7. painful erections in men (priapism) 11. strokes 3. kidney damage and loss of body water in urine 10. pain episodes 2. blood blockage in the spleen or liver (sequestration) 12. leg ulcers 5. eye damage 13. lung blockage 9.
vaccination for childhood illnesses.Serious Complications Infectious complications Prominent early in life Leading cause of morbidity and mortality Great improvement in the prognosis related to newborn screening for sickle cell disease. the use of prophylactic antibiotics. and aggressive diagnosis and treatment of febrile events Acute splenic sequestration Episodes of rapid increase in splenic size and decrease in hemoglobin Potential source of morbidity and mortality early in life for children with sickle cell anemia and at any age for those with Hb SC disease and sickle thalassemia .
Serious Complications Strokes Up to 15% of children may have overt or silent strokes during childhood Chronic transfusion therapy reduces the recurrence rate of overt stroke which may approach 75% without intervention Bone disease Early risk is primarily from osteomyelitis Infectious usually painful inflammatory disease of bone often of bacterial origin and may result in bone tissue death Avascular necrosis of the femur and humerus Death of bone tissue due to disrupted blood supply Marked by severe pain in the affected region and by weakened bone that may flatten and collapse .
leg sores. & retinal detachment Priapism Distressing complication that occurs at all ages Difficult to treat Causes a high incidence of impotence Chronic Anemia Associated with fatigue. irritability. eye problems. jaundice. gum disease . vitreous hemorrhage. pain. delayed puberty.Serious Complications Leg ulcers Seen in patients older than 10 years of age Resistant to therapy and cause significant morbidity Ophthalmic complications Proliferative retinopathy.
Serious Complications: PAIN Recurrent Pain Episodes or Sickling Crises Occur at any age but appear to be particularly frequent during late adolescence and early adult life Unpredictable Red Blood Cells get stuck in the small veins and prevent normal blood flow Characterized by severe pain in the back. abdomen. chest. and head Highly disruptive to life Most common reasons for individuals to seek health care . extremities.
Any sudden weakness or loss of feeling 8. Pain that will not go away with home treatment 9. Chest pain 3. Priapism (painful erection that will not go down) 6. Fever 2. Sudden vision change SEEK URGENT HOSPITAL TREATMENT IF IN CRISIS . Abdominal swelling 7. Shortness of Breath 4. Unusual headache 10.Danger Signs of a Crisis 1. Increasing tiredness 5.
and bones. Decrease in oxygen to the chest and lungs May lead to acute chest syndrome Damage to the lungs Severe pain and fever Lungs' airways narrow. back.Crises During a crisis severe pain in the fingers. joints. abdomen. further reducing O2 Leads to an increased risk of potentially fatal infections .legs. arms. toes.
but does not seem to do so in children. . bruises and strains Stress triggers pain in adults. bumps.Triggers of Pain Infections Thirst and dehydration caused by not drinking enough even if thirst is not felt Over-exertion Over-excitement Cold weather and cold drinks and swimming Bangs.
Predicting Pain Children and families can often tell when a severe sickle pain is coming on by Thirst Eyes turning yellow (jaundice). Sufferer being more irritable or tired than usual. .
Pain-killing medicines (analgesics): paracetamol.Alleviating Pain Warmth: increases blood flow Massaging and rubbing Heat from hot water bottles and deep heat creams Bandaging to support the painful region Resting the body Cognitive Behavioral Therapy Getting the sufferer to relax deep breathing exercises distracting the attention by other psychological methods. codeine non-steroidal anti-inflammatory. morphine if necessary .
Daily Preventative Measures 1. Getting regular check-ups from knowledgeable health care providers . Avoiding over exertion and stress 6. Drinking plenty of water daily (8-10 glasses for adults) 4. Avoiding too hot or too cold temperatures 5. Daily penicillin until age six to prevent serious infection 3. Getting plenty of rest 7. Taking the folic acid (folate) daily to help make new red cells 2.
Treating Complications Pain-killing drugs and oral and intravenous fluids To reduce pain and prevent complications. Transfusions Correct anemia Treat spleen enlargement in children before the condition becomes life-threatening Regular transfusion therapy also can help prevent recurring strokes in children at high risk of crippling nervous system complications. .
activity level Schools must be involved Family planning Suitable types of employment Air travel Increased fluids. dental extraction and during pregnancy. Adherence to medical regimen Vitamins. antibiotics. fluid intake. pain killers or oxygen may be recommended .Psychosocial Issues Require regular medical attention Especially before and after operations.
Psychosocial Issues Child should be encouraged to participate in sports. Strenuous outdoor activities should be avoided in cold or wet weather Should only swim if the water is warm and care is taken to keep warm when leaving the water If develops a crisis despite these precautions he or she should avoid swimming all together . Strenuous exercise. dehydration and cold can induce a crisis. but not pushed passed their limitations If they are in pain or feel tired they should be allowed to rest and keep warm. They should have access to drinks.
Psychosocial Issues Child Specific Issues: Coping with Pain Pain happens more often On an average of one third of all days Generally all day. even if not continuously all day Lasts longer Associated with great tiredness about half the time Causes them to spend significant time in bed On average the time spent wholly or partly in bed adds up to about a week of every school term. .
they are less likely to take advantage of their condition to seek attention or avoid distasteful tasks. No easily overt detectable signs of sickle pain So children known to have sickle cell disorder who say they are in pain must be trusted If they can rely on the adults around them to take them seriously. while others have frequent and severe pain Most children go through good and bad patches Doctors cannot predict who will be severely affected. .Psychosocial Issues Variability and Unpredictability Some are mildly affected and largely free from pain.
90 minutes. children are encouraged to drink much more than normal and more frequently May require about 1/4 litre of liquid every 60 . Child will need to go to the toilet more frequently May increase risk of Enuresis Boys at risk for priapism May be too embarrassed to mention to parents Severe sickling can lead to impotence .Psychosocial Issues To reduce risk of crisis.
reduced the frequency of painful crises.Developing Treatments Hydroxyurea The first effective drug treatment for adults with severe sickle cell anemia reported in early 1995 Daily doses of the anticancer drug. acute chest syndrome. hydroxyurea. needed fewer blood transfusions Increases production of fetal hemoglobin in the blood Fetal hemoglobin seems to prevent sickling of red cells cells containing fetal hemoglobin tend to survive longer in the bloodstream .
.Developing Treatments Bone marrow transplantation Shown to provide a cure for severely affected children with sickle cell disease Only about 18 percent of children with sickle cell anemia are likely to have a matched sibling.
The Ultimate Cure? Gene Therapy 1. Turning off the defective gene and simultaneously reactivating another gene that turns on production of fetal hemoglobin. “In the past 30 years.” . the life expectancy of people with sickle cell anemia has increased. Many patients with sickle cell anemia now live into their mid-forties and beyond. Correcting the “defective gene” and inserting it into the bone marrow 2. No real cure for Sickle Cell Anemia at this time.
org/ .massinteraction.painfoundation.sicklecellsociety.Websites http://www.gov/ http://www. Counselling and Caring for those with Sickle Cell Disorders and their families: UK based http://www. education.org/html/genome/ http://www.org/ American Sickle Cell Anemia Association ASCAA was founded in 1971 and is the oldest sickle cell research.org/ : Another Great Site information.org/: Sickle Cell Disease Association of America The Human Genome Project Sickle Cell Education Site at http://www. http://www.ncd.ascaa.sicklecelldisease. and social services organization in the United States.
Message Board http://www.htm Planet Sickle Cell Society (UK based) -Youth support. Information.edu/PEDS/SICKLE/chelate/index.sicklecellsociety.htm http://www.edu/PEDS/SICKLE/bbc/index.org/ The STARBRIGHT Foundation is dedicated to the development of projects that empower seriousl ill children to combat the medical and emotional challenges they face on a daily basis.org/sicklescene/pshomf.Sites for Kids http://www. Poetry. Coloring Books on Sickle Cell from Emory: http://www. Pen-Pals.emory.emory.htm .starbright.
Support Group Information: Florida. Atlanta: Parent SC Support Group (404) 616-4395 . Jacksonville: Sickle Cell Support Groups (904) 549-4472 Georgia.
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