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Read A
Young Boy's Account of Having Sickle Cell Disease
What's
It Like Being a Parent Of A Sickle Cell Patient
Sickle Cell
Disease: The Who, What and Why
Although sickle cell disease primarily affects
African-Americans, individuals of other ethnic backgrounds may also be
affected. Approximately 1 in 375 African-American children has sickle cell
disease. Other ethnic groups affected include Hispanic Americans from the
Caribbean, South America and Central America, as well as individuals from
Greece, Italy, Turkey, the Middle East, and East India. So what exactly is
sickle cell disease?
What is Sickle Cell Disease?
Sickle cell disease is a disease that affects a special protein inside
our red blood cells called hemoglobin. Red blood cells have an important
job. They pick up oxygen from the lungs and take it to every part of the
body. It is the hemoglobin in these cells that carries the oxygen to
different parts of the body.
A person with sickle cell disease makes a different kind of hemoglobin.
This causes the red blood cells to change their shape. Instead of being
smooth and round, the cells become hard and sticky. Their shape looks like
a banana or like a sickle, a hand tool used to cut wheat or tall grass. It
is this sickle shape of the red blood cells that gives “sickle cell”
disease its name. The hard, sticky sickle red blood cells have trouble
moving through small blood vessels. Sometimes they clog up these blood
vessels so that blood can’t bring oxygen to the tissues. This can cause
pain or damage to these areas.
History of Sickle Cell Disease
1910 Herrick described sickled cells in the blood of a dental student.
The term sickle cell anemia was used because of the “sickled” shape of
the blood cell.
1930 Seriver and Waugh showed that sickled cells were present in the
red cells of 7-10 percent of African Americans.
1934 Diggs and Ching reported that occlusion of the blood vessels might
be responsible for the painful “crises” of sickle cell disease (SCD).
1949 Neel and Beet described how SCD is inherited.
1950 Itano and Neel reported a mild form of SCD that was a mixture of
two hemoglobins: hemoglobin S and hemoglobin C.
1951 Neel reported another mild form of SCD that was a mixture of
hemoglobin S and thalassemia.
1957 Ingram demonstrated that the abnormality of Hemoglobin S is a
substitution in the amino acid chain.
1970 Ali found a mild form of SCD in Saudi Arabia associated with a
higher fetal hemoglobin.
1973 Garrick developed a test to screen newborns for SCD.
1974 Pearson discussed the importance of testing all newborns for SCD.
1974 Kan and associates developed a test for prenatal diagnosis by
testing fetal blood from the umbilical cord.
1984 Nagel, Wainscoat, Labie, Kazazian and Orkin discovered 3 major
genetic DNA types of SCD. They are termed Benin, Senegal, and the Central
African Republic after the areas in which they are common in Africa.
1987 A panel recommended that all infants born in the U.S. be screened
at birth for SCD and that affected infants be placed on prophylactic
penicillin by the age of three months.
1991 The Pediatric Sickle Cell Center at Long Beach Memorial Medical
Center was approved by California Children’s Services (CCS).
1993 The Pediatric Sickle Cell Center at Long Beach Memorial Medical
Center started using the TCD annually to screen for stroke risk in all
children with SCD.
1995 The SCD CCS Stroke Clinic was started at Long Beach Memorial
Medical Center.
Sickle Cell Research
1978 The Cooperative Study of SCD (CSSCD) studied over 4,000
individuals including newborns to adults in their fifties throughout the
U.S. to examine the clinical course of SCD.
1984 Hydroxyurea was shown to increase the fetal hemoglobin by Veith,
Platt, Charuche, and Dover.
1986 Gaston and the CSSCD Penicillin Study demonstrated that infants
and young children placed on prophylactic penicillin had lower rates of
pneumoccal infection. This study provided the first preventive therapy for
children with SCD which resulted in a significant reduction of the major
cause of death of children between the ages of one and five.
1991 Platt and the CSSSD reported that the morbidity in SCD is related
to the rate of pain crises.
1992 Charuche and co-workers completed the phase 1 study of hydroxyurea
as a treatment for SCD.
1994 Platt and the CSSCD reported on the mortality and life expectancy
associated with SCD. This study involved the participants with the entire
spectrum of all DNA types of SCD.
1995 The Multicenter Study of Hydroxyurea demonstrated the first
effective therapy for severely affected adult patients with SCD. There was
a 50 percent reduction in pain crisis in patients with severe SCD.
1995 The Multicenter Study of Acute Chest Syndrome (ACS) was designed
to determine the cause of ACS and the effectiveness of different
treatments.
The Pediatric Sickle Center at Long Beach Memorial received an award
for enrolling a large number of patients.
1996 Paula Groncy, M.D., Teddi Softley, Ph.D. and colleagues received a
grant from the Long Beach Memorial Foundation for a study “Identification
of Stroke Risk in Children with Sickle Cell Disease Through Multimodal
Imaging”. Since the study opened, no children followed at our center
have presented with overt clinical stroke.
1996 The first multicenter study of bone marrow transplantation in
children with SCD reports that this procedure can provide a cure for young
patients who have a matched sibling.
1996 Joetta DeSwarte-Wallace and colleagues conducted a national survey
on the utilization of Desferal for iron chelation.
1997 The first SCD cell patient from Long Beach Memorial underwent a
bone marrow transplant at the University of California at San Francisco
Medical Center.
1997 Adams and the CSSCD STOP Stroke Study recommended that all
children with SCD be screened every six months with TCD. Transfusion
therapy was recommended for all children with average TCD velocities
greater than 200.
1997 The Pediatric Sickle Cell Center co-sponsored its first National
Conference with the Sickle Cell Disease Research Foundation. Two hundred
people attended.
1997 Paula Groncy, M.D., Teddi Softley, Ph.D. and colleagues received a
grant from the Long Beach Memorial Foundation for a follow-up study, “Progression
of Cerebrovasculopathy in Children with Sickle Cell Disease”.
1998 The Multicenter Hip Coring Study opened for enrollment. The
Pediatric Sickle Cell Center will participate in the National Study.
Complications
Persons with Sickle Cell Disease are at risk for a variety of
complications including pain crises, infections, acute chest syndrome,
stroke, splenic sequestration (spleen fills with blood), gallstones, leg
ulcers, avascular necrosis (damage to the bones), kidney dysfunction, and
priapism (persistent, unwanted erection of the penis).
We are fortunate to have a well-established Sickle Cell Center headed
by Dr. Paula Groncy, M.D. The Sickle Cell Center at Miller Children’s at
Long Beach Memorial Medical Center was established and approved by the
state of California prior to 1993 as a clinic for patients insured by the
California Children’s Services (CCS). CCS authorizes healthcare
facilities and specialists to provide interdisciplinary services to
children and adolescents with CCS insurance coverage. Patients at the
Sickle Cell center are seen by a multi-disciplinary team composed of
pediatric specialists including the hematologist/oncologist, neurologist,
rehabilitation specialist, dentist, clinical nurse specialist,
nutritionist, psychologist, social worker, and physical therapist.
Generally, patients are seen at least semi-annually in this clinic for
comprehensive sickle cell care with the primary focus being health
promotion and prevention of complications. Numerous tests are recommended
to screen for various problems or complications.
Listed below are many of the tests, frequency, and rationale of the
tests ordered.
Audiogram: A hearing test important for diagnosis of hearing
problems and for patients on a chronic transfusion program receiving
Desferal since long-term use can cause hearing loss. Testing is
recommended every 2 years after age five, or yearly for patients on a
chronic transfusion program.
Opthamology Exam: An eye exam is recommended every 3 years after
the age of 5, or sooner if indicated. Sickle Cell patients are at a high
risk of changes or damage to the vessels of the eye due to blood flow
obstruction. If problems are identified, more routine follow-up and/or
treatment may be indicated.
Pediatric Pneumogram: A sleep test performed overnight in the
hospital to check oxygen levels and for prolonged interruptions of
breathing. This test can help identify patients at high risk for stroke
or those who may benefit from adenoidectomy or tonsillectomy.
Echocardiogram: An evaluation of the structure and function of
the heart. It is common for sickle cell patients to have changes in
their heart size and also heart murmurs since their heart is constantly
working hard due to the chronic anemia. This test is recommended every 3
years after 1 year of age.
Electrocardiogram (EKG): is a heart test to assess for heart
damage or disease. This test is recommended every 3 years after 1 year
of age.
Pulmonary Function Testing (PFT): Evaluates a patient’s lung
functioning. PFTs are often used for pre-operative evaluation or
managing patients with known lung disease. This test is recommended
every year after 6 years of age.
Chest x-ray: A x-ray of the chest to look for pneumonia or lung
disease. This test is recommended every 3 years after 1 year of age.
Abdominal Ultrasound: A test to visualize the structures inside
the body to look for causes of upper abdominal pain, gallstones,
abnormalities of the liver, spleen or kidneys, or to look for
enlargements of the abdominal blood vessels. This test is recommended
every 3 years after 1 year of age.
Bone Age: This test is usually a x-ray of the hand and wrist
bones to determine an approximate bone age. This test is recommended at
age 5 and 10 years of age.
Hip X-rays: X-ray films of the hips are helpful in diagnosing
damage of the hip caused by decreased blood flow to the bones and joint
space. This test is recommended every 3 years after age 5 and/or if
symptoms of hip pain should develop.
Chemistry Panel: A blood test to evaluate electrolytes, kidney
and liver function enzymes, glucose, cholesterol and other chemical
values. Performed at least annually for general screening purposes.
Hepatitis Screen: A blood test to screen for exposure to
hepatitis, performed at diagnosis for baseline studies and every three
years thereafter, or annually for those on a chronic transfusion
program.
Human Immunodeficiency Virus Screen: A blood test to screen for
HIV. Recommended at diagnosis for baseline and yearly for patients on
chronic transfusions to document safety of blood products.
Hemoglobin Electrophoresis: The blood test used to accurately
diagnose sickle cell disease and determine a person’s hemoglobin type.
Routinely done at diagnosis and at 2 years of age.
Ferritin: A blood test to test for level of ferritin (a protein
that functions in iron storage) and often used to interpret amount of
iron retained in the body for patients on chronic transfusion programs
and as an indicator of the effectiveness of Desferal therapy.
Urinalysis: A urine test to check for urinary tract infection and
the presence of blood, sugar or protein which could indicate other
problems such as hemorrhage, diabetes, kidney or liver disease.
Red Blood Cell Phenotyping: Testing of blood for antigens for
matching blood prior to transfusion therapy. Recommended at diagnosis
and prior to starting transfusion program.
Transcranial Doppler Ultrasound (TCD): This is an ultrasound of
the head which measures the average speed of blood flow through major
blood vessels. This is an important test which is useful for stroke
detection. If this test is abnormal, an MRI/MRA is recommended. TCDs are
recommended every six months.
Neuropsychological Evaluations/Psychological Consultation: This
is an assessment designed to assess brain functioning. Personality,
coping skills, behavior, intelligence, memory, attention, visual-motor
skills, language, academics and social skills may be assessed. School
consultation, individual, family and group counseling, education,
support, medication referrals and other services may be needed to help
patients and their families understand and cope with SCD. Yearly
evaluations are recommended. MRI/MRA studies are recommended when
neuropsychological testing is abnormal.
Magnetic Resonance Imaging with Magnetic Resonance Angiography (MRI/MRA):
This is a special three-dimensional X-ray of the brain. The MRI
examines the structure of the brain and the MRA looks at the blood
vessels.
Flu Shot: A vaccine to provide protection against the current flu
virus. Recommended annually.
PPD: A skin test to check for sensitivity or exposure to
tuberculosis. Recommended annually.
Pneumovax: A vaccine to protect against pneumoccus, a common germ
that sickle cell patients are at risk for contracting. Recommended at 2
and 7 years of age.
Hepatitis B Vaccine: A vaccine to provide protection against
Hepatitis B, a type of hepatitis (inflammation of the liver) infection
that is commonly transmitted via blood components. Recommended for all
newborns or at diagnosis if not already protected.
Social Work Assessment: A comprehensive evaluation is completed
during diagnosis, transfer to our service and annually, thereafter.
Ongoing assessment of the patient’s and family’s coping and
adjustment to illness and prescribed treatment. Supportive services also
include information and referrals to community-based agencies designed
to facilitate the patient’s and family’s needs. Ongoing evaluations
of patient’s developmental and maturational level as well as social
issues impeding progress is also important.
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