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The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders.
People with SCD have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in
their red blood cells.
Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.
Inherited means that the disease is passed by genes from parents to their children. SCD is
not contagious. A person cannot catch it, like a cold or infection, from someone else.
People who have SCD inherit two abnormal hemoglobin genes, one from each parent. In all
forms of SCD, at least one of the two abnormal genes causes a persons body to make
hemoglobin S. When a person has two hemoglobin S genes, Hemoglobin SS, the disease is
called sickle cell anemia. This is the most common and often most severe kind of SCD.
Hemoglobin SC disease and hemoglobin S thalassemia (thal-uh-SEE-me-uh) are two other
common forms of SCD.
What is sickle cell disease?
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 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. Characteristic
features of this disorder include a low number of red blood cells (anemia), repeated
infections, and periodic episodes of pain. The severity of symptoms varies from person to
person. Some people have mild symptoms, while others are frequently hospitalized for more
serious complications.
The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells.
When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia
can cause shortness of breath, fatigue, and delayed growth and development in children. The
rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are
signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and
inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of
oxygen-rich blood and can lead to organ damage, especially in the lungs, kidneys, spleen, and
brain. A particularly serious complication of sickle cell disease is high blood pressure in the
blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension
occurs in about one-third of adults with sickle cell disease and can lead to heart failure.
How common is sickle cell disease?
Sickle cell disease affects millions of people worldwide. It is most common among people
whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and
Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central
America, and parts of the Caribbean.
Sickle cell disease is the most common inherited blood disorder in the United States,
affecting 70,000 to 80,000 Americans. The disease is estimated to occur in 1 in 500 African
Americans and 1 in 1,000 to 1,400 Hispanic Americans.
What genes are related to sickle cell disease?
This condition is inherited in an autosomal recessive pattern, which means both copies of the
gene in each cell have mutations. The parents of an individual with an autosomal recessive
condition each carry one copy of the mutated gene, but they typically do not show signs and
symptoms of the condition.
These resources address the diagnosis or management of sickle cell disease and may include
treatment providers.
People who have this form of SCD inherit a sickle cell gene (S) from one parent and from
the other parent a gene for an abnormal hemoglobin called C. Hemoglobin is a protein that
allows red blood cells to carry oxygen to all parts of the body. This is usually a milder form
of SCD.
SCD Fact Sheet
People who have this form of SCD inherit one sickle cell gene (S) from one parent and one
gene for beta thalassemia, another type of anemia, from the other parent. There are two types
of beta thalassemia: 0 and +. Those with HbS beta 0-thalassemia usually have a severe
form of SCD. People with HbS beta +-thalassemia tend to have a milder form of SCD.
People who have these forms of SCD inherit one sickle cell gene (S) and one gene from an
abnormal type of hemoglobin (D, E, or O). Hemoglobin is a protein that allows red
blood cells to carry oxygen to all parts of the body. The severity of these rarer types of SCD
varies.
http://www.cdc.gov/ncbddd/sicklecell/facts.html 14 desember 2015
Hemoglobin SS
Hemoglobin SC
Hemoglobin S0 thalassemia
Hemoglobin S+ thalassemia
Hemoglobin SD
Hemoglobin SE
Overview
Cells in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in red
blood cells takes up oxygen in the lungs and carries it to all the tissues of the body.
Red blood cells that contain normal hemoglobin are disc shaped (like a doughnut without a
hole). This shape allows the cells to be flexible so that they can move through large and small
blood vessels to deliver oxygen.
Sickle hemoglobin is not like normal hemoglobin. It can form stiff rods within the red cell,
changing it into a crescent, or sickle shape.
Sickle-shaped cells are not flexible and can stick to vessel walls, causing a blockage that
slows or stops the flow of blood. When this happens, oxygen cant reach nearby tissues.
Figure A shows normal red blood cells flowing freely in a blood vessel. The inset image
shows a cross-section of a normal red blood cell with normal hemoglobin. Figure B shows
abnormal, sickled red blood cells blocking blood flow in a blood vessel. The inset image
shows a cross-section of a sickle cell with abnormal (sickle) hemoglobin forming abnormal
stiff rods.
The lack of tissue oxygen can cause attacks of sudden, severe pain, called pain crises. These
pain attacks can occur without warning, and a person often needs to go to the hospital for
effective treatment.
Most children with SCD are pain free between painful crises, but adolescents and adults may
also suffer with chronic ongoing pain.
The red cell sickling and poor oxygen delivery can also cause organ damage. Over a lifetime,
SCD can harm a persons spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones,
or skin.
Sickle cells cant change shape easily, so they tend to burst apart or hemolyze. Normal red
blood cells live about 90 to 120 days, but sickle cells last only 10 to 20 days.
The body is always making new red blood cells to replace the old cells; however, in SCD the
body may have trouble keeping up with how fast the cells are being destroyed. Because of
this, the number of red blood cells is usually lower than normal. This condition, called
anemia, can make a person have less energy.
Outlook
Sickle cell disease is a life-long illness. The severity of the disease varies widely from person
to person.
In high-income countries like the United States, the life expectancy of a person with SCD is
now about 4060 years. In 1973, the average lifespan of a person with SCD in the United
States was only 14 years. Advances in the diagnosis and care of SCD have made this
improvement possible.
At the present time, hematopoietic stem cell transplantation (HSCT) is the only cure for SCD.
Unfortunately, most people with SCD are either too old for a transplant or dont have a
relative who is a good enough genetic match for them to act as a donor. A well-matched
donor is needed to have the best chance for a successful transplant.
There are effective treatments that can reduce symptoms and prolong life. Early diagnosis
and regular medical care to prevent complications also contribute to improved well-being.
The image shows how sickle hemoglobin genes are inherited. A person inherits two
hemoglobin genesone from each parent. A normal gene will make normal hemoglobin (A).
A sickle hemoglobin gene will make abnormal hemoglobin (S).
In the image above, each parent has one hemoglobin A gene and one hemoglobin S gene, and
each of their children has:
A 25 percent chance of inheriting two normal genes: In this case the child does not
have sickle cell trait or disease. (Case 1)
A 25 percent chance of inheriting two hemoglobin S genes: This child has sickle cell
disease. (Case 4)
It is important to keep in mind that each time this couple has a child, the chances of that child
having sickle cell disease remain the same. In other words, if the first-born child has sickle
cell disease, there is still a 25 percent chance that the second child will also have the disease.
Both boys and girls can inherit sickle cell trait, sickle cell disease, or normal hemoglobin.
If a person wants to know if he or she carries a sickle hemoglobin gene, a doctor can order a
blood test to find out.
About 1 in every 365 black children is born with sickle cell disease.
There are also many people with this disease who come from Hispanic, southern European,
Middle Eastern, or Asian Indian backgrounds.
Approximately 100,000 Americans have SCD.
What Are the Signs and Symptoms of Sickle Cell Disease?
Early Signs and Symptoms
If a person has sickle cell disease (SCD), it is present at birth. But most infants do not have
any problems from the disease until they are about 5 or 6 months of age. Every state in the
United States, the District of Columbia, and the U.S. territories requires that all newborn
babies receive screening for SCD. When a child has SCD, parents are notified before the
child has symptoms.
Some children with SCD will start to have problems early on, and some later. Early
symptoms of SCD may include:
The signs and symptoms of SCD will vary from person to person and can change over time.
Most of the signs and symptoms of SCD are related to complications of the disease.
Pain episodes (crises) can occur without warning when sickle cells block blood flow and
decrease oxygen delivery. People describe this pain as sharp, intense, stabbing, or throbbing.
Severe crises can be even more uncomfortable than post-surgical pain or childbirth.
Pain can strike almost anywhere in the body and in more than one spot at a time. But the pain
often occurs in the
Lower back
Legs
Arms
Abdomen
Chest
Illness
Temperature changes
Stress
But often a person does not know what triggers, or causes, the crisis. (See acute pain
management.)
Chronic Pain
Many adolescents and adults with SCD suffer from chronic pain. This kind of pain has been
hard for people to describe, but it is usually different from crisis pain or the pain that results
from organ damage.
Chronic pain can be severe and can make life difficult. Its cause is not well understood. (See
chronic pain management.)
Severe Anemia
People with SCD usually have mild to moderate anemia. At times, however, they can have
severe anemia. Severe anemia can be life threatening. Severe anemia in an infant or child
with SCD may be caused by:
A big spleen may also cause pain in the left side of the belly. A parent can
usually palpate or feel the enlarged spleen in the belly of his or her child.
Splenic sequestration crisis and aplastic crisis most commonly occur in infants and children
with SCD. Adults with SCD may also experience episodes of severe anemia, but these
usually have other causes.
No matter the cause, severe anemia may lead to symptoms that include:
Shortness of breath
Feeling dizzy
Babies and infants with severe anemia may feed poorly and seem very sluggish. (See anemia
management.)
Infections
The spleen is important for protection against certain kinds of germs. Sickle cells can damage
the spleen and weaken or destroy its function early in life.
People with SCD who have damaged spleens are at risk for serious bacterial infections that
can be life-threatening. Some of these bacteria include:
Pneumococcus
Meningococcus
Salmonella
Staphylococcus
Chlamydia
Mycoplasma pneumoniae
Sickling in blood vessels of the lungs can deprive a persons lungs of oxygen. When this
happens, areas of lung tissue are damaged and cannot exchange oxygen properly. This
condition is known as acute chest syndrome. In acute chest syndrome, at least one segment of
the lung is damaged.
This condition is very serious and should be treated right away at a hospital.
Acute chest syndrome often starts a few days after a painful crisis begins. A lung infection
may accompany acute chest syndrome.
Symptoms may include:
Chest pain
Fever
Shortness of breath
Rapid breathing
Cough
Clinical Stroke
A stroke occurs when blood flow is blocked to a part of the brain. When this happens, brain
cells can be damaged or can die. In SCD, a clinical stroke means that a person shows outward
signs that something is wrong. The symptoms depend upon what part of the brain is affected.
Symptoms of stroke may include:
Loss of balance
Severe headache
Brain imaging and tests of thinking (cognitive studies) have shown that children and adults
with hemoglobin SS and hemoglobin S0 thalassemia often have signs of silent brain injury,
also called silent stroke. Silent brain injury is damage to the brain without showing outward
signs of stroke.
This injury is common. Silent brain injury can lead to learning problems or trouble making
decisions or holding down a job. (See Cognitive Screening and silent stroke management.)
Eye Problems
People with SCD can have problems with blood vessels in the heart and with heart function.
The heart can become enlarged. People can also develop pulmonary hypertension.
People with SCD who have received frequent blood transfusions may also have heart damage
from iron overload. (See transfusion management.)
Pulmonary Hypertension
In adolescents and adults, injury to blood vessels in the lungs can make it hard for the heart to
pump blood through them. This causes the pressure in lung blood vessels to rise. High
pressure in these blood vessels is called pulmonary hypertension. Symptoms may include
shortness of breath and fatigue.
When this condition is severe, it has been associated with a higher risk of death. (See
screening for pulmonary hypertension.)
Kidney Problems
The kidneys are sensitive to the effects of red blood cell sickling.
SCD causes the kidneys to have trouble making the urine as concentrated as it should be. This
may lead to a need to urinate often and to have bedwetting or uncontrolled urination during
the night (nocturnal enuresis). This often starts in childhood. Other problems may include:
Kidney disease
Priapism
Males with SCD can have unwanted, sometimes prolonged, painful erections. This condition
is called priapism.
Priapism happens when blood flow out of the erect penis is blocked by sickled cells. If it goes
on for a long period of time, priapism can cause permanent damage to the penis and lead to
impotence.
If priapism lasts for more than 4 hours, emergency medical care should be sought to avoid
complications. (See priapism management.)
Gallstones
When red cells hemolyze, they release hemoglobin. Hemoglobin gets broken down into a
substance called bilirubin. Bilirubin can form stones that get stuck in the gallbladder. The
gallbladder is a small, sac-shaped organ beneath the liver that helps with digestion. Gallstones
are a common problem in SCD.
Gallstones may be formed early on but may not produce symptoms for years. When
symptoms develop, they may include:
Nausea
Vomiting
If problems continue or recur, a person may need surgery to remove the gallbladder.
Liver Complications
There are a number of ways in which the liver may be injured in SCD.
Sickle cell intrahepatic cholestasis is an uncommon, but severe, form of liver damage that
occurs when sickled red cells block blood vessels in the liver. This blockage prevents enough
oxygen from reaching liver tissue.
These episodes are usually sudden and may recur. Children often recover, but some adults
may have chronic problems that lead to liver failure.
People with SCD who have received frequent blood transfusions may develop liver damage
from iron overload.
Leg Ulcers
Sickle cell ulcers are sores that usually start small and then get larger and larger.
The number of ulcers can vary from one to many. Some ulcers will heal quickly, but others
may not heal and may last for long periods of time. Some ulcers come back after healing.
People with SCD usually dont get ulcers until after the age of 10.
Joint Complications
Sickling in the bones of the hip and, less commonly, the shoulder joints, knees, and ankles,
can decrease oxygen flow and result in severe damage. This damage is a condition called
avascular or aseptic necrosis. This disease is usually found in adolescents and adults.
Symptoms include pain and problems with walking and joint movement. A person may need
pain medicines, surgery, or joint replacement if symptoms persist.
Delayed Growth and Puberty
Children with SCD may grow and develop more slowly than their peers because of anemia.
They will reach full sexual maturity, but this may be delayed.
Pregnancy
Pregnancies in women with SCD can be risky for both the mother and the baby.
Mothers may have medical complications including:
Infections
Blood clots
Miscarriages
Premature births
As in other chronic diseases, people with SCD may feel sad and frustrated at times. The
limitations that SCD can impose on a persons daily activities may cause them to feel isolated
from others. Sometimes they become depressed.
People with SCD may also have trouble coping with pain and fatigue, as well as with
frequent medical visits and hospitalizations. (See living with emotional issues.)
How Is Sickle Cell Disease Diagnosed?
Screening Tests
People who do not know whether they make sickle hemoglobin (hemoglobin S) or another
abnormal hemoglobin (such as C, thalassemia, E) can find out by having their blood tested.
This way, they can learn whether they carry a gene (i.e., have the trait) for an abnormal
hemoglobin that they could pass on to a child.
When each parent has this information, he or she can be better informed about the chances of
having a child with some type of sickle cell disease (SCD), such as hemoglobin SS, SC, S
thalassemia, or others.
Newborn Screening
When a child has SCD, it is very important to diagnose it early to better prevent
complications.
Every state in the United States, the District of Columbia, and the U.S. territories require that
every baby is tested for SCD as part of a newborn screening program.
In newborn screening programs, blood from a heel prick is collected in spots on a special
paper. The hemoglobin from this blood is then analyzed in special labs.
Newborn screening results are sent to the doctor who ordered the test and to the childs
primary doctor.
If a baby is found to have SCD, health providers from a special follow-up newborn screening
group contact the family directly to make sure that the parents know the results. The child is
always retested to be sure that the diagnosis is correct.
Newborn screening programs also find out whether the baby has an abnormal hemoglobin
trait. If so, parents are informed, and counseling is offered.
Remember that when a child has sickle cell trait or SCD, a future sibling, or the childs own
future child, may be at risk. These possibilities should be discussed with the primary care
doctor, a blood specialist called a hematologist, and/or a genetics counselor.
Prenatal Screening
Doctors can also diagnose SCD before a baby is born. This is done using a sample of
amniotic fluid, the liquid in the sac surrounding a growing embryo, or tissue taken from the
placenta, the organ that attaches the umbilical cord to the mothers womb.
Testing before birth can be done as early as 810 weeks into the pregnancy. This testing looks
for the sickle hemoglobin gene rather than the abnormal hemoglobin.
If someone was born in a country that doesnt perform newborn SCD screening, he or she
might be diagnosed with SCD later in childhood. These people should also be referred as
soon as possible for special SCD care.
All people who have SCD should see their SCD care providers regularly. Regularly means
every 3 to 12 months, depending on the persons age. The SCD doctor or team can help to
prevent problems by:
Performing tests
Educating families about the disease and what to watch out for
Preventing Infection
In SCD, the spleen doesnt work properly or doesnt work at all. This problem makes people
with SCD more likely to get severe infections.
Penicillin
In children with SCD, taking penicillin two times a day has been shown to reduce the chance
of having a severe infection caused by the pneumococcus bacteria. Infants need to take liquid
penicillin. Older children can take tablets.
Many doctors will stop prescribing penicillin after a child has reached the age of 5. Some
prefer to continue this antibiotic throughout life, particularly if a person has hemoglobin SS
or hemoglobin S0 thalassemia, since people with SCD are still at risk. All people who have
had surgical removal of the spleen, called a splenectomy, or a past infection with
pneumococcus should keep taking penicillin throughout life.
Immunizations
People with SCD should receive all recommended childhood vaccines. They should also
receive additional vaccines to prevent other infections.
Pneumococcus. Even though all children routinely receive the vaccine against
pneumococcus (PCV13), children with SCD should also receive a second kind of
vaccine against pneumococcus (PPSV23). This second vaccine is given after 24
months of age and again 5 years later. Adults with SCD who have not received any
pneumococcal vaccine should get a dose of the PCV13 vaccine. They should later
receive the PPSV23 if they have not already received it or it has been more than 5
years since they did. A person should follow these guidelines even if he or she is still
taking penicillin.
Influenza. All people with SCD should receive an influenza shot every year at the
start of flu season. This should begin at 6 months of age. Only the inactivated vaccine,
which comes as a shot, should be used in people with SCD.
Meningococcus. A child with SCD should receive this vaccine (Menactra or Menveo)
at 2, 4, 6, and 1215 months of age. The child should receive a booster vaccine 3
years after this series of shots, then every 5 years after that.
The child is awake during the TCD exam. The test does not hurt at all. The TCD machine
uses sound waves to measure blood flow like the ultrasound machine used to examine
pregnant women.
Eye Examinations
An eye doctor, or ophthalmologist, should examine a persons eyes every 12 years from the
age of 10 onwards.
These exams can detect if there are SCD-related problems of the eye. Regular exams can help
doctors find and treat problems early to prevent loss of vision. A person should see his or her
doctor right away for any sudden change in vision.
Pulmonary Hypertension
Doctors have different approaches to screening for pulmonary hypertension. This is because
studies have not given clear information as to when and how a person should receive the
screening. People with SCD and their caretakers should discuss with their doctor whether
screening makes sense for them.
Cognitive Screening
People with sickle cell disease can develop cognitive (thinking) problems that may be hard to
notice early in life.
Sometimes these problems are caused by silent strokes that can only be seen with magnetic
resonance imaging (MRI) of the brain.
People with SCD should tell their doctors or nurses if they have thinking problems, such as
difficulties learning in school, slowed decision making, or trouble organizing their thoughts.
People can be referred for cognitive testing. This testing can identify areas in which a person
could use extra help.
Children with SCD who have thinking problems may qualify for an Individualized Education
Program, or IEP. An IEP is a plan that helps students to reach their educational goals. Adults
may be able to enroll in vocational rehabilitation programs that can help them with job
training.
Doctors and nurses know that there is a lot of information to learn, and they dont expect
people to know everything after one discussion. People with SCD and their families should
not be afraid to ask questions.
Topics that are usually covered include:
Hours that medical staff are available and contact information to use when people
with SCD or caretakers have questions
A plan for what to do and where to get care if a person has a fever, pain, or other signs
of SCD complications that need immediate attention
How SCD is inherited and the risk of having a child with SCD
How to palpate (feel) a childs spleen. Because of the risk of splenic sequestration
crisis, caretakers should learn how to palpate a childs spleen. They should try to feel
for the spleen daily and more frequently when the child is ill. If they feel that the
spleen is bigger than usual, they should call the care provider.
Transitioning Care
When children with SCD become adolescents or young adults, they often need to transition
from a pediatric care team to an adult care team. This period has been shown to be associated
with increased hospital admissions and medical problems. There seem to be many reasons for
this.
Some of the increased risk is directly related to the disease. As people with SCD get older,
they often develop more organ damage and more disabilities.
The shift in care usually occurs at the same time that adolescents are undergoing many
changes in their emotional, social, and academic lives. The transition to more independent
self-management may be difficult, and following treatment plans may become less likely.
When compared with pediatrics, there are often fewer adult SCD programs available in a
given region. This makes it more difficult for a person with SCD to find appropriate doctors,
particularly those with whom they feel comfortable.
To improve use of regular medical care by people with SCD and to reduce age-related
complications, many SCD teams have developed special programs that the make transition
easier. Such programs should involve the pediatric and the adult care teams. They should also
start early and continue over several years.
Acute Pain
Each person with SCD should have a home treatment regimen that is best suited to their
needs. The providers on the SCD team usually help a person develop a written, tailored care
plan. If possible, the person with SCD should carry this plan with them when they go to the
emergency room.
When an acute crisis is just starting, most doctors will advise the person to drink lots of fluids
and to take a non-steroidal anti-inflammatory (NSAID) pain medication, such as ibuprofen.
When a person has kidney problems, acetaminophen is often preferred.
If pain persists, many people will find that they need a stronger medicine.
Combining additional interventions, such as massage, relaxation methods, or a heating pad,
may also help.
If a person with SCD cannot control the pain at home, he or she should go to an SCD day
hospital/outpatient unit or an emergency room to receive additional, stronger medicines and
intravenous (IV) fluids.
Some people may be able to return home once their pain is under better control. In this case,
the doctor may prescribe additional pain medicines for a short course of therapy.
People often need to be admitted to the hospital to fully control an acute pain crisis.
When taken daily, hydroxyurea has been found to decrease the number and severity of pain
episodes.
Chronic Pain
Sometimes chronic pain results from a complication, such as a leg ulcer or aseptic necrosis of
the hip. In this case, doctors try to treat the complication causing the pain.
While chronic pain is common in adults with SCD, the cause is often poorly understood.
Taking pain medicines daily may help to decrease the pain. Some examples of these
medicines include:
Duloxetine
Gabapentin
Amitriptyline
Other approaches, such as massage, heat, or acupuncture may be helpful in some cases.
Chronic pain often comes with feelings of depression and anxiety. Supportive counseling and,
sometimes, antidepressant medicines may help. (See coping and emotional issues.)
Severe Anemia
People should see their doctors or go to a hospital right away if they develop anemia
symptoms from a splenic sequestration crisis or an aplastic crisis. These conditions can be
life-threatening, and the person will need careful monitoring and treatment in the hospital. A
person also usually needs a blood transfusion.
People with SCD and symptoms of severe anemia from other causes should also see a doctor
right away.
Infections
Fever is a medical emergency in SCD. All caretakers of infants and children with SCD should
take their child to their doctor or go to a hospital right away when their child has a fever.
Adults with SCD should also seek care for fever or other signs of infection.
All children and adults who have SCD and a fever (over 38.50 C or 101.30 F) must be seen by
a doctor and treated with antibiotics right away.
Some people will need to be hospitalized, while others may receive care and follow-up as an
outpatient.
Clinical Stroke
People with SCD who have symptoms of stroke should be brought to the hospital right away
by an ambulance. If a person is having symptoms of stroke, someone should call 9-1-1.
Symptoms of stroke may include:
Loss of balance
Severe headache
If imaging studies reveal that the person has had an acute stroke, he or she may need an
exchange transfusion. This procedure involves slowly removing an amount of the persons
blood and replacing it with blood from a donor who does not have SCD or sickle cell trait.
Afterward, the person may need to receive monthly transfusions or other treatments to help to
prevent another stroke.
Priapism
Sometimes, a person may be able to relieve priapism by:
Taking medicine
If a person has an episode that lasts for 4 hours or more, he should go to the hospital to see a
hematologist and urologist.
Pregnancy
Pregnant women with SCD are at greater risk for problems. They should always see an
obstetrician, or OB, who has experience with SCD and high-risk pregnancies and deliveries.
The obstetrician should work with a hematologist or primary medical doctor who is well
informed about SCD and its complications.
Pregnant women with SCD need more frequent medical visits so that their doctors can follow
them closely. The doctor may prescribe certain vitamins and will be careful to prescribe pain
medicines that are safe for the baby.
A pregnant woman with SCD may need to have one or more blood transfusions during her
pregnancy to treat complications, such as worsening anemia or an increased number of pain
or acute chest syndrome events.
Hydroxyurea
What Is Hydroxyurea?
Hydroxyurea is an oral medicine that has been shown to reduce or prevent several SCD
complications.
This medicine was studied in patients with SCD because it was known to increase the amount
of fetal hemoglobin (hemoglobin F) in the blood. Increased hemoglobin F provides some
protection against the effects of hemoglobin S.
Hydroxyurea was later found to have several other benefits for a person with SCD, such as
decreasing inflammation.
Chronic Transfusion
Doctors recommend regular or ongoing blood transfusions for people who have had an acute
stroke, since transfusions decrease the chances of having another stroke.
Doctors also recommend chronic blood transfusions for children who have abnormal TCD
ultrasound results because transfusions can reduce the chance of having a first stroke.
Some doctors use this approach to treat complications that do not improve with hydroxyurea.
They may also use transfusions in people who have too many side effects from hydroxyurea.
Hemolysis
Infection
Alloimmunization (can make it hard to find a matching unit of blood for a future
transfusion)
All blood banks and hospital personnel have adopted practices to reduce the risk of
transfusion problems.
People with SCD who receive transfusions should be monitored for and immunized against
hepatitis. They should also receive regular screenings for iron overload. If a person has iron
overload, the doctor will give chelation therapy, a medicine to reduce the amount of iron in
the body and the problems that iron overload causes.
At the present time, most SCD transplants are performed in children who have had
complications such as strokes, acute chest crises, and recurring pain crises. These transplants
usually use a matched donor.
Because only about 1 in 10 children with SCD has a matched donor without SCD in their
families, the number of people with SCD who get transplants is low.
HSCT is more risky in adults, and that is why most transplants are done in children.
There are several medical centers that are researching new SCD HSCT techniques in children
and adults who dont have a matched donor in the family or are older than most recipients.
Hopefully, more people with SCD will be able to receive a transplant in the future, using
these new methods.
People who do not know whether they carry an abnormal hemoglobin gene can ask their
doctor to have their blood tested.
Couples who are planning to have children and know that they are at risk of having a child
with sickle cell disease (SCD) may want to meet with a genetics counselor. A genetics
counselor can answer questions about the risk and explain the choices that are available.
A nourishing diet
Enough sleep
People with SCD often tire easily, so be careful to pace yourself and to avoid very strenuous
activities.
Dont smoke and try to avoid second-hand smoke. If you drink alcohol, do so in moderation
and drink extra water to avoid dehydration.
Fever
Stroke symptoms
Problems breathing
If your child attends daycare, preschool, or school, speak to his or her teacher about the
disease. Teachers need to know what to watch for and how to accommodate your child. (See
Tips for Supporting Students with Sickle Cell Disease.)
A heating pad
A warm bath
A massage
Physical therapy
Acupuncture
Distracting and relaxing activities, such as listening to music, talking on the phone, or
watching TV
Mental Health
Living with SCD can be very stressful. At times, you may feel sad or depressed. Talk to your
doctor or SCD medical team if you or your child is having any emotional problems. Tell your
doctor right away if you or your child is feeling very depressed. Some people find counseling
or antidepressant medicines helpful.
You may find that speaking to a counselor or psychiatrist, or participating in a support group
is helpful. When families and friends provide love and support to people with SCD, they can
help to relieve stress and sadness. Let your loved ones know how you feel and what you
need.