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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.
Mechanism
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)
Mechanism -HbS
When sickle haemoglobin (HbS) gives up its oxygen to the tissues, HbS sticks together
Forms long rods form inside RBC RBC become rigid, inflexible, and sickle-shaped Unable to squeeze through small blood vessels, instead blocks small blood vessels Less oxygen to tissues of body Normally 120 days Chronic state of anaemia
Genetics
1. Pain when Less Oxygen than usual (scuba diving, activities at high altitude (12,000ft), under general anaesthesia) 2. Minute kidney problems
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
Severe Malaria
History
As populations migrated, the sickle cell-mutation spread to other Mediterranean areas, further into the Middle East and eventually into the Western Hemisphere. In the United States and other countries where malaria is not a problem, the sickle hemoglobin gene no longer provides a survival advantage. Instead, it may be a serious threat to the carrier's children, who may inherit two abnormal sickle hemoglobin genes and have sickle cell anemia.
Who is at risk?
Most common in Africans and African Americans. East Asia, Southern Italy, Saudi Arabia, India, Egypt, South and Central American, Cuba, the Caribbean, Greece, and Iran, and Eastern Jews have also been found to have a form of this illness.
Prevalence
More than 2.5 million Americans have the trait 70,000 or more Americans have sickle cell disease About 1,000 babies are born with the disease each year in America
In Nigeria, 1/3 population of U.S., 45,000-90,000 babies with sickle cell disease are born each year
Among Latinos
1 in 172 have Sickle Cell Trait (Hb AS) 1 in 1,000 have Sickle Cell Disease (Hb SS, SC, SBeta-Thal)
Screening
1. Haemoglobin Electrophoresis
Simple Blood test Routine screening in high risk groups During pregnancy Before anaesthesia
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
Medical Complications
1. pain episodes 2. strokes 3. increased infections 4. leg ulcers 5. bone damage 6. yellow eyes or jaundice 7. early gallstones 8. lung blockage 9. kidney damage and loss of body water in urine 10. painful erections in men (priapism) 11. blood blockage in the spleen or liver (sequestration) 12. eye damage 13. low red blood cell counts (anemia) 14. delayed growth
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, vaccination for childhood illnesses, 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
Serious Complications
Leg ulcers
Seen in patients older than 10 years of age Resistant to therapy and cause significant morbidity
Ophthalmic complications
Priapism
Distressing complication that occurs at all ages Difficult to treat Causes a high incidence of impotence
Chronic Anemia
Associated with fatigue, irritability, jaundice, pain, delayed puberty, leg sores, eye problems, gum disease
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, chest, abdomen, extremities, and head Highly disruptive to life Most common reasons for individuals to seek health care
6. Unusual headache
Crises
During a crisis severe pain in the fingers, toes, arms, joints,legs, back, abdomen, 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, further reducing O2 Leads to an increased risk of potentially fatal infections
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, bumps, bruises and strains Stress triggers pain in adults, but does not seem to do so in children.
Predicting Pain
Children and families can often tell when a severe sickle pain is coming on by
Thirst
Eyes turning yellow (jaundice),
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. Pain-killing medicines (analgesics): paracetamol, codeine non-steroidal anti-inflammatory, morphine if necessary
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.
Psychosocial Issues
Require regular medical attention
Especially before and after operations, dental extraction and during pregnancy.
Psychosocial Issues
Child should be encouraged to participate in sports, 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. Strenuous exercise, dehydration and cold can induce a crisis. 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
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
Psychosocial Issues
Variability and Unpredictability Some are mildly affected and largely free from pain, while others have frequent and severe pain Most children go through good and bad patches Doctors cannot predict who will be severely affected.
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, they are less likely to take advantage of their condition to seek attention or avoid distasteful tasks.
Psychosocial Issues
To reduce risk of crisis, children are encouraged to drink much more than normal and more frequently May require about 1/4 litre of liquid every 60 - 90 minutes. 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
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, hydroxyurea, reduced the frequency of painful crises, acute chest syndrome, needed fewer blood transfusions
Increases production of fetal hemoglobin in the blood
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.
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.
Websites
http://www.sicklecellsociety.org/ : Another Great Site information, Counselling and Caring for those with Sickle Cell Disorders and their families: UK based
http://www.ascaa.org/ American Sickle Cell Anemia Association ASCAA was founded in 1971 and is the oldest sickle cell research, education, and social services organization in the United States. http://www.ncd.gov/ http://www.painfoundation.org/
http://www.starbright.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. Coloring Books on Sickle Cell from Emory: http://www.emory.edu/PEDS/SICKLE/bbc/index.htm http://www.emory.edu/PEDS/SICKLE/chelate/index.htm
Support Group Information: Florida, Jacksonville: Sickle Cell Support Groups (904) 549-4472