SICKLE CELL ANEMIA
Source: Google Health,
https://health.google.com/health/ref/Sickle+cell+anemia
Edited for classroom use
Overview
Sickle cell anemia is a disease passed down through families in which red
blood cells form a crescent shape. (Red blood cells are normally shaped like a
disc.) Because of their distorted shape, sickle cells carry less oxygen and can
more easily clog small blood vessels.
Sickle cell anemia is a recessive trait. Humans can be carriers (Rr) or have a homozygous recessive genotype (rr) that
results in the sickle cell phenotype. African Americans have one of the highest rates of having this trait (1 in 12).
Symptoms
Almost all patients with sickle cell anemia have painful episodes (attacks), which can last from hours to days. These
attacks can affect the bones of the back, the long bones, and the chest. Some patients have one episode every few years,
which other have many episodes per year. The attacks can be bad enough to require a hospital stay.
Common symptoms include:
 Attacks of abdominal pain
 Bone pain
 Breathlessness
 Delayed growth and puberty
 Fatigue (Tiredness)
 Fever
 Paleness
 Fast heart rate
 Ulcers on the lower legs (in adolescents and
adults)
Other symptoms include:
 Chest pain
 Excessive thirst
 Frequent urination
 Poor eyesight/blindness
 Strokes
 Skin ulcers
Treatment
Patients with sickle cell disease need ongoing treatment, even when they are not having a painful episode, in order to
manage and control symptoms. They should take supplements of folic acid (essential for producing red blood cells)
because red blood cells are turned over so quickly. Some patients take hydroxyurea (Hydrea) to decrease the number of
episodes.
During a sickle cell episode, they may need certain treatments. Attacks are treated with pain medicines and by drinking
plenty of fluids. Some patients may need narcotics.
Antibiotics and vaccines are given to prevent bacterial infections, which are common in children with sickle cell disease.
Blood transfusions are used to treat a sickle cell crisis. They may also be used on a regular basis to help prevent strokes.
Other treatments for complications may include:
 Dialysis or kidney transplant for kidney disease
 Drug rehabilitation and counseling for psychological complications
 Gallbladder removal (if you have gallstone disease)
 Hip replacement for avascular necrosis of the hip
 Irrigation or surgery for persistent, painful erections (priapism)
 Surgery for eye problems
 Wound care, zinc oxide, or surgery for leg ulcers
Bone marrow transplants can cure sickle cell anemia. However, transplants have many risks, including infection, rejection,
and graft-versus-host disease. They are not an option for most patients. Also, sickle cell anemia patients are often unable
to find suitable donors.
Costs for treatment can range from less than $1000 a month to at, or above, $3000 per month.
DOWN SYNDROME
Source: Google Health, https://health.google.com/health/ref/Down+syndrome
Edited for classroom use
Overview
Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. In most cases,
Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy
21. The extra chromosome causes problems with the way the body and brain develop.
Down syndrome is the most common single cause of human birth defects.
Symptoms
Down syndrome symptoms vary from person to person and can range from mild to severe. Physical development is often
slower than normal. Most children with Down syndrome never reach their average adult height. Children may also have
delayed mental and social development. As children with Down syndrome grow and become aware of their limitations,
they may also feel frustration and anger.
Common problems may include:
 Impulsive behavior
 Poor judgment
 Short attention span
 Slow learning
Many different medical conditions are seen in babies born with Down syndrome, including:
 Birth defects involving the heart (Affects about half of those with Down syndrome)
 Dementia
 Eye problems (Most children with Down syndrome need glasses)
 Early and massive vomiting, which may be a sign of a gastrointestinal blockage
 Hearing problems
 Hip problems and risk of dislocation
 Long-term constipation problems
 Sleep apnea (Trouble breathing which sleeping)
 Teeth that appear later than normal and in a location that may cause problems with chewing
 Increased risk of Leukeima
Treatment
There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery
immediately after birth. Certain heart defects may also require surgery.
Medical conditions, such as those listed above, may require antibiotics or another form of medical care, including physical
and occupational therapy. Those who have Down syndrome need to have an eye exam every year during infancy, hearing
tests every 6 to 12 months, dental exams every 6 months, X-rays of the upper or cervical spine between ages 3 - 5 years,
and Pap smears and pelvic exams beginning during puberty or by age 21.
Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and
compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal
with frustration. At the same time, it is important to encourage independence.
Adolescent females and women with Down syndrome are usually able to get pregnant. There is an increased risk of
sexual abuse and other types of abuse in both males and females.
CYSTIC FIBROSIS
Source: Google Health, https://health.google.com/health/ref/Cystic+fibrosis
Edited for classroom use
Overview
Cystic fibrosis (CF) is a genetic disease that causes thick, sticky mucus to
build up in the lungs and digestive tract. It is one of the most common chronic
lung diseases in children and young adults, and may result in early death.
CF is a recessive trait. Millions of Americans are carriers (Hh). In order to
have the CF phenotype, a person must have a homozygous recessive
genotype (hh). It is estimated that 1 in 29 Caucasian Americans have at least one CF allele. It is the most common, and
most deadly, genetic disorder for Caucasians in the United States.
Symptoms
Because there are more than 1,000 mutations of the CF gene, symptoms differ from person to person.
Symptoms in newborns may include:
 Delayed growth
 Failure to gain weight normally during childhood
 No bowel movements in first 24 to 48 hours of
life
 Salty-tasting skin
Symptoms related to bowel function may include:
 Belly pain from severe constipation
 Increased gas, bloating, or a belly that appears
swollen (distended)
 Nausea and loss of appetite
 Stools that are pale or clay colored, foul
smelling, have mucus, or that float
 Weight loss
Symptoms related to the lungs and sinuses may include:
 Coughing or increased mucus in the sinuses or
lungs
 Fatigue
 Nasal congestion caused by nasal polyps
 Recurrent episodes of pneumonia. Symptoms in
someone with cystic fibrosis include:
o Fever
o Increased coughing
o Increased shortness of breath
o Loss of appetite
o More sputum
 Sinus pain or pressure caused by infection or
polyps
Treatment
An early diagnosis of CF and a comprehensive treatment plan can improve both survival and quality of life. Follow-up and
monitoring are very important.
Treatment for lung problems includes:
 Antibiotics to prevent and treat lung and sinus infections.
 Inhaled medicines to help open the airways
 DNAse enzyme replacement therapy to thin mucus and make it easier to cough up
 Flu vaccine and pneumococcal polysaccharide vaccine (PPV) yearly
 Lung transplant may be an option in some cases
 Oxygen therapy may be needed as lung disease gets worse
Treatment for bowel and nutritional problems may include:
 A special diet high in protein and calories for older children and adults
 Pancreatic enzymes to help absorb fats and protein
 Vitamin supplements, especially vitamins A, D, E, and K
Care and monitoring at home should include:
 Clearing or bringing up mucus or secretions from the airways up to four times a day
 Drinking plenty of fluids
 Exercising two or three times each week, but not through contact sports, scuba diving, and endurance activities