Charles Curtis-Thomas, RN, MD

MPHP 439: Public Health Management and Policy

Prof.Duncan Neuhauser

Spring, 2005†††

 

 

 

 

 

††††††††††††††††††††††††††††††††††††††††††† SICKLE CELL DISEASE

 

 

Sickle Cell Disease is a life-long inherited disorder. People with the disease are usually diagnosed, especially in developed countries, during infancy. The disease causes red blood cells to change from healthy, round blood cells to sticky and crescent-shaped ones.Red blood cells contain hemoglobin that enables them to carry oxygen from the lungs, through the blood stream, to all parts of the body.††† In sickle cell disease this hemoglobin is defective (1).

 

 

Sickle cell disease affects mainly blacks, though people of South American, Southern European or Middle Eastern descent also are at risk. About one in 500 black newborns and one out of every 1,000 to 1,400 Hispanics babies are diagnosed with sickle cell disease every year in the United States (1).Statistics from developing countries are usually unreliable.A baby born with sickle cell disease inherits a gene for the disorder from each parent.Some people inherit only one gene and these people are referred to as having a sickle cell trait.Those with the trait do not develop the disease, but can pass the trait on to their children.†† Almost 10% of African Americans carry the sickle cell gene, which makes prenatal test almost mandatory if this disease is to be prevented (1).

 

A lot of research has been going on to understands, reliably diagnose and properly treat patients with sickle cell disease (2). This has ultimately improved the quality and longevity of patients with sickle cell disease. Because not too many people have the disease, especially is the developed world, funding for these researches can be a problem, and this leads to a slower pace in ground-breaking discoveries.Various Public Health measures have been instituted to educate the public in the prevention of sickle cell disease by means of genetic counseling and prenatal and postnatal screening. These measures have not had the desired effect because of healthcare disparity, and ignorance.

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†††††††††††††††††††††††††††††††††††††† Complications of the disease

 

Patients with sickle cell disease sometimes whether treated or not run various risks arising from the disease. Because patients are anemic when compared to the general population and require blood transfusion, there is a risk, especially in resource-poor countries, for the development of blood borne transfusion associated diseases, example HIV, Hepatitis B, C, and D (2).

 

A stroke can occur as another complication of the disease (2). In this condition, sickle cells block blood flow to an area of the brain. Signs and symptoms of stroke may include seizures, weakness or numbness of the arms and legs, sudden speech difficulties, and loss of consciousness. This may at times be fatal.

 

Infection is another common complication of sickle cell disease (2). Infants and young children with sickle cell disease are especially vulnerable to serious bacterial infections, such as those that cause meningitis and blood infection. Infections are the major cause of death in children with sickle cell disease particularly in developing countries. In developed countries, death from infection in sickle cell disease patients have declined dramatically since the routine use ofthe antibiotic penicillin to help prevent these infections. Affected children should receive penicillin twice daily between the ages of two months and at least five years of age ( 3,4).

 

Pain episodes are the most common symptom of sickle cell disease (2). The so called painful crisis in sickle cell disease is believed to be caused by ischemic tissue injury resulting from obstruction of blood flow produced by sickled erythrocytes. The reduced blood flow causes regional hypoxia and acidosis, which further increases the sickling. Some affected individual have one or fewer pain episodes a year, while others may have 15 or more (3, 4).Pain episodes usually last a few hours to a few days, but May sometimes last for weeks. Pain may be mild to require only over the counter or severe enough to warrant hospitalization and administration of pain-killing medication. In resource-poor countries this can be a problem and it is not uncommon for sickle cell disease patients in pain to suffer without receiving a pain medication.

 

Hand foot syndrome is a condition wherein the feet and hands may swell when small vessels become blocked (2). This may actually be the first symptom of sickle cell disease in babies. This is usually treated with pain medication and fluids.

 

Acute chest syndrome is another serious complication of sickle cell disease (2). This is similar to pneumonia, with symptoms such as difficulty breathing, chest pain and fever. It may be caused by an infection or by blocked blood vessels in the lungs. This condition is life-threatened and, where resources are available, should be treated in a hospital. The acute chest syndrome is the leading cause of mortality among those suffering from sickle cell disease. Most times the cause is unknown and treatment in this case is supportive. Various studies using improved diagnostic modalities, points to infection and fat embolism, and are often times under diagnosed.

 

Organ damage may occur when sickle cells block blood flow to organs leading to deprivation of these organs of oxygen and nutrients (2).Blindness, for example, may occur when tiny vessels that feed the eye get plugged with sickle cells, and over time this damages the retina and leads to blindness.

 

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††††††††††††††††††††††††††††††††††††††††††††††† PUBLIC HEALTH ASPECT

 

Health care maintenance services for children and adolescents with sickle cell disease include those services provided to healthy children and services specifically provided for sickle cell disease(3). Routine services include immunizations and dietary counseling as well as education about preventive health measures. The frequency of visits should depend on the needs of the child and family. During the first 2 years of life, health care maintenance visits should be scheduled concurrently with needed immunization (3). All children with sickle cell disease should be immunized against hepatitis B virus and should receive a polyvalent pneumococcal vaccine at age 2 years, with a booster at age 5 years(3).Dietary counseling is an important part of routine health care. Newborn screening for sickle cell disease is an effective first step to reduce morbidity and mortality in individuals with the disease. Parents of newborns with a positive screening test result for sickle cell disease must be contacted before the child becomes 2 months of age to confirm the diagnosis. The diagnosis should be confirmed by a laboratory with expertise in analysis in variant hemoglobin (3).

In addition to genetic counseling, sickle cell patients and their families may need counseling in academic and vocational guidance as well as counseling related to recreational activities and travel.The basic premise, however, is that parents should treat their affected child as normally as possible. Parents should encourage activities that foster self-esteem and self-reliance.A positive self-image and a feeling of self-worth will help children cope more effectively with their illness. Another aspect is the psychosocial dynamics of sickle cell disease. The patient with sickle cell disease faces loss of self esteem, isolation, loneliness, self-resentment, and sometimes anger (3). Because of these factors, patient support groups and psychosocial counseling can be helpful.

In terms of malaria, patients with sickle cell disease are generally resistant to Malaria infection caused by the anopheles mosquitoes. This may be a helpful aspect because malaria causes destruction of red blood cells, and so does sickle cell disease. If sickle cell disease patients were also susceptible to malaria, the mortality rate would have been great. †††††

In the past, people with sickle cell disease were denied jobs or fair treatment at work solely because they had sickle cell disease. Now the Americans with Disabilities Act of 1990 protect people with sickle cell disease from job discrimination.

 

†††††††††††††††††††††††††††††††††††††††† Public Health Programs that work

 

To really understand public health programs that work, it is necessary to study the State of Maryland Sickle Cell Disease Program. This program follows children with sickle cell disease and other blood disorders long-term and offers the following services: case management for the first5 years of life, home visiting, annual hematology evaluation, genetic counseling, parent education, support groups and summer camps. Because of these programs, Maryland has the lowest mortality rate for children with sickle cell disease in the US. Some of the specific programs offered are:

--- Hemoglobin Disorder testing; here testing is available through the Local Health Departments for newborns, older children, and adults free of charge; newborn screening is also provided in the hospital at birth (11).

--- Case Management including home visits and yearly health status assessments are available for patients up to age 5 who were identified by new born screening program.

---Pediatric Hematology and adult Hematology visits are available for definitive diagnosis of sickle cell disease, consultation and medical management.

---Hematology Disorders Outreach Clinics are available at several locations around the state for yearly follow-up.(11)

---Genetic Counseling is available for families of newborns, children and adults with the disease, individual with the trait, and couples at risk for having children with a hemoglobin disorder(11).

---Prenatal diagnosis is available to detect sickle cell and other hemoglobin disorders.

---Financial Assistance is available for families of children who meet the financial eligibility criteria.

---Transportation funds are available on a limited basis for families of children identified through newborn screening to travel to medical appointments(11)

---Education Programs and Support Services for sickle cell disease are widely available.

 

In a nutshell, Public health Programs that work will include the above and the following:

---Health Education of the target population about the impact of sickle cell disease(12).

---Increase public awareness about the impact sickle cell disease has on the family(12).

---Enhance the self esteem and improve the quality of life for those with the disease(12).

 

 

 

†††††††††††††††††††††††††††††††††† Medical Treatment of Sickle Cell Disease

 

Understanding the pathophysiology, treatment and complications of sickle cell disease is important so that health caregivers can provide optimum care. Patient care interventions for individuals with sickle cell disease are both supportive and treatment oriented. A delicate balance must exist between providing supportive care and fostering independence to ensure that patients become well-informed, active participants in their care. Also, as in other chronic illnesses, psychosocial issues affect social, emotional, academic and vocational adaptation to sickle cell throughout the patientís life cycle. The patientís care providers must be aware of these factors and respond appropriately.

The treatment and management of sickle cell disease should be approached from two fronts; outpatient care and inpatient care. Outpatient treatment is usually done when the patient is stable, and impatient care is done when the patient is unstable, e.g., acute pain, severe anemia, infection, etc.

 

Bone marrow Transplant: is the only cure for sickle cell disease. The cure was discovered in 1983. Bone marrow transplantation as a treatment for sickle cell disease was first used in Europe for patients from Africa. These patients did well, and since then additional patients have undergone transplantation in Europe and in the U.S.A.

Children and adolescence younger than 16 years of age who have severe complications and have an HLA-matched donor available are the best candidates for transplantation

Red blood cells are made in the bone marrow, and during transplantation, the patientís bone marrow is replaced with marrow from a person who does not have sickle cell disease. Even though bone marrow transplant is a cure for sickle cell disease, its use is limited because of difficulty in finding a matching donor.†††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††† †††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††††

 

Hydroxyurea: all infants are born with fetal blood cells, and these cells do not form sicklings. After infancy the body drastically reduces production of these cells. Hydroxyurea is a medication taken once a day by mouth to help increase the bodyís production of fetal red blood cells; thereby reducing sickling and some of the major complications of sickle cell disease. In a study (NIH Record, Feb. 14, 1995), daily doses of hydroxyurea reduced the frequency of painful episodes and hospital admissions for painful crisis by 50%.Disabling feature of sickle cell anemia, interfering with education, employment, and psychosocial development.††† Hydroxyurea therapy also reduced the frequency of acute chest syndrome, a life-threatening complication of sickle cell anemia (4). The major problem now with hydroxyurea is that we do not yet know the long-term effects of it. Is it mutagenic, carcinogenic, or leukemogenic

 

Red blood cell transfusions: transfusion is not needed for the usual anemia or episode of pain associated with sickle cell disease. Urgent replacement of blood is often required for sudden severe anemia occurring in children when blood is trapped in an enlarged spleen. Patients with renal failure, sometimes have symptomatic anemia requiring transfusion. Chronic red blood cell transfusion is used as a treatment for various complications of sickle cell disease. It is the major treatment for cerebrovascular accidents (stroke) in children with sickle cell disease. With chronic transfusions, blood is given every four to six weeks. Complications of chronic red blood cell transfusions include iron overload, infection, and transfusion reaction. In resource-poor countries, blood-borne infection with HIV, hepatitis, B, C, D, may be a potential problem (5). Controlled trials comparing conventional treatment of symptoms and complications, intensive transfusions, hydroxyuria, and transplantation have not been conducted, and therefore the relative values of these treatments are unknown

 

Pain relief: in a given year, about 60 % of patients with sickle cell anemia will have an episode of severe pain(8). A small proportion of patients `have severe pain constantly. This pain differences are one sign of how the reaction to the disease is not evenly distributed the goal of pain treatment is to provide prompt pain relief. Often, this is not achieved because of inadequate understanding of the clinical pharmacology of analgesics, excessive concern about narcotic addiction, or well-meaning but misguided use of placebos. There is no role for the use of placebos in the evaluation or treatment of the pain of sickle cell disease. The choice of therapy is based on potency, mode of action, and the side effects of analgesics(9). Patients who are hospitalized should have a pain management team added to the treatment team(10).

 

Exchange transfusion: this can be a treatment of choice for patients experiencing Acute Chest syndrome. The procedure is done by means of exchanging the total blood volume of the patient. The end result of this procedure is to ensure that the patient sickle cells are reduced to fewer than 30 %. The danger with this procedure is that there may be a delayed reaction to the transfusion and this delay may not manifest itself until days later (6). This delayed reaction is more common because patient with sickle cell disease are black whereas the blood available for transfusion comes from donor of European descent (5).

 

A final word on current treatment:

Only a minority will argue that hydroxyurea and bone marrow transplantation, as is currently used, is the final word in the treatment of those with sickle cell disease. There is an urgent need to study new applications of current treatments and to devise new treatments directed at disrupting multiple facets of the disease process remains of paramount importance. While we await an invariably effective treatment for sickle cell disease, we should also address several practical problems. For example, how should acute chest syndrome be treated, and which patients should undergo exchange transfusion? How aggressively should blood pressure be lowered to decrease the risk of stroke?How can we better understand the causes of the differences in sickle cell disease, so that toxic treatments can be directed to patients who are most likely to have the worst disease complications?A better and longer life span for individuals with sickle cell disease in developed countries has resulted from clinical and basic investigation, however, the main burden of sickle cell disease lies in Africa, where even the minimal standard of care is unavailable. In certain parts of Africa, up to a third of the people carry a gene for Hemoglobin S. Close to 120,000 babies with sickle cell disease are born yearly, as opposed to 1000 in the U.S., but less than 2 % survive to the age of five years(1). In Africa, treatment will benefit the few that are fortunate, but in order for treatment to have a positive effect, any treatment must be translated into a form that can be applied successfully in the less developed and poorer countries of the world(1).

 

Important websites that give information on sickle cell disease

 

  1. Sickle cell Disease Association of America, Inc.:WWW:sicklecelldisease.org

This is a great website for the lay person and for the professional. It has a coordinated approach to addressing issues related to sickle cell disease. Its mission is to promote finding a universal cure for sickle cell disease while improving the quality of life for individuals and families where sickle cell related conditions exists.

 

  1. National Marrow Donor Program: WWW. marrow.org/patient:

This site caters for patients who have been diagnosed with a disease that can be treated by a bone marrow. It also answers commonly asked questions posed by patients and their families.

 

  1. Human Genome Project Information: WWW.ornl.gov/sci.

This website helps the patient to understand the genetic aspect of sickle cell disease. It explains the genetic component of sickle cell disease in laymanís terms.

 

  1. The Sickle Cell Information Center :WWW.scinfo.org

This website is a question and answer center wherein frequently asked questions submitted to the website by patients, clinicians and others are answered

 

 

 

†††††††††††††††††††††††††††††††††††† REFERENCES

 

 

  1. Sears D A: The morbidity of sickle cell trait. A review of the literature. Am J Med. 1978 ; 64 : 1021-36
  2. Bunn HF. Pathogenesis and treatment of sickle cell disease. N Engl J Med 1997†††† ††††††††††††;337: 762-9.
  3. The Sickle cell information center. Atlanta : Emory University school of Medicine, 1998
  4. Platt OS, et. Al. Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. J .Clin. Invest. 1984 : 74 :652-656
  5. Thomas ED. The pros and cons of bone marrow transplantation for sickle cell anemia. Semin Hematology 1991 ; 28 : 240-243
  6. Johnson CS, Verdegem TV. Pulmonary complications of sickle cell disease, Seminars in respiratory Medicine. 9: 287-93, 1988
  7. Rosse WF, et.al. 1990. Transfusion and alloimmunization in sickle cell disease. The cooperative Study of Sickle Cell Disease. Blood 76:1431-1437
  8. Ohaeri JU, et. al. 1995. The psychosocial problems of sickle cell disease sufferers and their methods of coping. Soc. Sci Med 40:955-960
  9. Barbarin OA, et al. 1994 . Estimating rates of psychosocial problems in urban poor children with sickle cell anemia. Health Soc Work 19: 112-119
  10. McCrae JD, et. al. 1998 Health status in sickle cell disease : examining the roles of pain coping strategies, somatic awareness, and negative affectivity. J Behav. Med 21 : 35-55
  11. State of Maryland Sickle cell Disease program
  12. North Carolina Center for Genomics and Public Health

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