Also called, by type of sickle cell disease: sickle hemoglobin C disease (also known as hemoglobin SC disease); sickle beta thalassemia disease (also known as sickle beta plus thalassemia disease and sickle beta zero thalassemia disease); sickle cell anemia (also known as hemoglobin SS disease, or homozygous sickle cell disease
What is sickle cell
disease?
Sickle cell disease is a group of blood disorders that
prevent the normal flow of blood in the body because of the effect on the
hemoglobin within red blood cells.
·
Hemoglobin is the main
ingredient in red blood cells, helping them carry oxygen from the lungs to
other parts of the body.
·
Normal red blood cells
have hemoglobin A, which helps keep red blood cells soft and round so they flow
easily through small blood vessels.
·
People with sickle
cell disease have mostly hemoglobin S (also called sickle hemoglobin) in their
red blood cells.
·
Hemoglobin S can form
hard fibers inside the red cells, causing them to reshape into sickle (banana)
shape. Abnormally shaped red blood cells cannot move through blood vessels
easily and at times are blocked from delivering oxygen to some body tissues.
·
Sickle cell disease is
always inherited (passed down in families).
·
When one parent has
sickle cell disease and the other carries only one of the abnormal genes, such
as hemoglobin S, their child has a 1 in 2 (50 percent) chance of having sickle
cell disease.
·
When both parents
carry a sickle cell gene, but are not sick themselves, their child has a 25
percent (1 in 4) chance of having sickle cell disease.
How common is sickle cell disease?
·
Sickle cell disease is
the most common inherited blood disorder in Nigeria, affecting about 2% to 3%
of Nigeria population.
·
It can occur in all
races but is most common in African-Americans and Hispanics. About one out of
365 African-American babies born in the US has sickle cell disease.
What are the symptoms of sickle cell disease?
Symptoms of sickle cell disease include:
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Painful swelling of
hands and feet
·
High fevers because of
weakened defenses against bacterial infection
·
Severe pain in various
parts of the body—may require hospital stays
·
Paleness, fatigue and
rapid pulse because of anemia from fewer red blood cells
·
Chest pain
·
Trouble breathing
·
Enlarged spleen
·
Yellowing of eyes and
skin (jaundice)
·
Delayed growth or
onset of puberty
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Abdominal (belly) pain
·
Infections, including
urinary tract infections and pneumonia
·
Stroke
How is sickle cell disease treated?
·
Transfusions
of red blood cells — are given
every three to four weeks. This is the main treatment for fighting the strokes
that can occur in children with sickle cell disease.
·
Complications can
include iron overload, infection, antibody formation and unwanted transfusion
reactions that can mimic symptoms, such as anemia.
·
Hydroxyurea — is a drug that is used to help reduce
cell sickling as well as many of the major complications of sickle cell disease
·
Hydroxyurea is a
once-daily medication taken by mouth.
·
The treatment goal is
to boost normal hemoglobin levels by increasing the patient’s level of fetal
hemoglobin (HbF), which normally decreases very quickly after birth.
·
Stem
cell transplant —
·
The cure was first
performed successfully in 1983, when a St. Jude patient with leukemia and
sickle cell disease received a bone marrow transplant. The procedure cured both
diseases.
·
During a transplant,
the patient’s bone marrow is replaced with marrow from a person who does not
have sickle cell disease. The transplanted cells grow into healthy blood cells.
·
Even though bone
marrow transplant is a cure for sickle cell disease, its use is limited because
of the problems in finding a matched donor, and the complications associated
with transplant.
·
Some types of stem
cell transplants may be called “bone marrow transplants” because the cells come
from the donor’s bone marrow.
·
Other
treatments include
antibiotics, pain medicines and psychological counseling. These are used mainly
to treat side effects of sickle cell anemia.
What are the survival rates for sickle cell
disease?
·
Overall, the lives of
people with any type of sickle cell disease are typically 20 to 30 years
shorter than those of people who do not have it.
·
Formerly, 50 percent
of sickle cell disease patients did not live beyond age 20, and most did not
survive to age 50. Today, with early diagnosis and use of recently developed
treatments, the life expectancy of children with sickle cell disease has
increased 98 percent. For example, people with hemoglobin SS may live to age 50
or older.