Sickle Cell Disease

Sickle Cell Disease is a group of disorders that are inherited and affect red blood cells.  It is inherited by both parents passing a Sickle Cell gene to the child.  Normally, red blood cells are round, smooth, and can bend.  Because of these qualities and the presence of Hemoglobin, red blood cells are able to carry Oxygen within blood and travel well in blood vessels.  The Sickle Cell gene causes the red blood cell to change shape to look like a sickle (GBT, 2020).  The change in shape of the red blood cell causes it to not be able to bend.  This lack of flexibility causes the red blood cells to block blood vessels and therefore, they get "stuck" in blood vessels and obstruct them (CDC, 2020).  Their decreased ability to travel in blood vessels affects their ability to deliver Oxygen to the body.  The change in shape also affects the length of time they are viable.  Typically, red blood cells remain in the body for up to 120 days.  Sickled red blood cells only remain in the body for 10 - 20 days (JHM, 2021).  The shorter life of sickled red blood cells causes an individual to suffer from chromic anemia.  Additionally, as they are filtered through the spleen, which filters the blood and is important in the immune system, they get stuck and damage the spleen. The damage to the spleen causes someone to be at an increased risk for infections (JHM, 2021).

There are several types of Sickle Cell Disease.  The most common is Sickle Cell Anemia (HbSS).  With HBSS, an individual has inherited two sickle cell genes (S), one from each parent.  This is the most severe form of Sickle Cell disease as symptoms occur more often and are more severe.  Other types of Sickle Cell Disease include:

• HbSC disease:  individual inherits a sickle cell gene (S) and an abnormal Hemoglobin gene (C).  This form is milder than HbSS.
• HbSBeta Thalassemia: individual inherits a sickle cell gene (S) and a Beta Thalassemia gene.  Because there are two types of Beta Thalassemia, + and 0.  HbSB+ is a mild form of Sickle Cell Disease.  HbSB0 is a severe form similar to HbSS.
• HbAS: also known as Sickle Cell Trait.  Individual inherits one Sickle Cell gene (S) and 1 normal gene (A).  There are usually no symptoms of disease. (CDC, 2020)(Healthline. 2017)

Symptoms typically begin within the first year of life.  Symptoms and complications of Sickle Cell Disease include:

• Fatigue
• Fussiness in babies
• Bedwetting - due to kidney problems
• Jaundice
• Hand - Foot syndrome - swelling and pain in hands and feet.  Accompanied by fever.
• Frequent infections - there is increased risk, especially of bacterial infections due to splenic damage.  A leading cause of death in infants and children is Pneumonia.
• Acute Chest Syndrome - chest pain, coughing, difficulty breathing, and fever.  Can be life-threatening.
• Anemia - due to red blood vessels dying after 10 to 20 days.
• Delayed growth or puberty
• Vision issues - sickle cells block blood vessels in eye damaging retina.
• Pain Crisis - sickled red blood cells get stuck and block blood vessels causing sudden mild to severe pain.
• Splenic Sequestration - occurs when many sickle cells get stuck within the spleen causing it to enlarge.  This enlargement causes sudden weakness, pale lips, fast breathing, extreme thirst, abdominal pain and fast heartbeat.
• Leg ulcers - several factors cause ulcers, usually in lower leg.  They occur more commonly in men and between 10 to 50 years old.
• Stroke - occurs when sickle cells block blood vessel to brain.
• Deep Vein Thrombosis (DVT) & Pulmonary Embolism (PE): sickled cells contribute to blood coagulation and increase risk of blood clots either in deep veins or lungs.
• Gallstones: the increased rate at which sickled red blood cells die cause increased byproducts that form gallstones.
• Pregnancy problems: increased risk of Hypertension and blood clots during pregnancy. (CDC, 2021)(Healthline, 2017)

Approximately 90% of those diagnosed with Sickle Cell Disease in the United States are of African descent with about 1 in every 365 individuals of African descent being affected and 1 in 13 having Sickle Cell Trait (NIH, 2020).  In order to be diagnosed with Sickle Cell Disease, a blood test must be done which is typically done as one of the screening tests done with newborns (CDC, 2021).  Blood tests can also determine type of Sickle Cell Disease.

There are several treatments for Sickle Cell Disease including:

• Medications:
• Voxelotor - prevents sickle shape.
• Crizanlizumab - tmca - used to treat pain crises.
• Penicillin - decreases risk of severe infections particularly by pneumococcus bacteria.
• Hydroxyurea - decreases complications and should not be used during pregnancy.
• L - glutamine oral powder -  decrease pain crises.
• Hydration - help to keep cells from deforming.
• Regular exercise and reducing stress - reduce pain crises
• Transfusions - help to treat and prevent complications.
• Blood and Bone Marrow Transplant: the only cure for Sickle Cell Disease.  Risky in adults.  Individual must have a matched donor. (Mayo, 2020)(Healthline, 2017)

To learn more about Sickle Cell Disease, watch our Youtube video:

For more information on Sickle Cell Disease, view the CDC factsheet at https://www.cdc.gov/ncbddd/sicklecell/documents/SCD-factsheet_What-is-SCD.pdf

CDC. (2021) What is Sickle Cell Disease?.  Center for Disease Control and Prevention.  Retrieved from https://www.cdc.gov/ncbddd/sicklecell/facts.html

GBT. (2020) Sickle Cell Disease.  Global Blood Therapeutics.  Retrieved from https://www.gbt.com/research/sickle-cell-disease/

  

Healthline. (2017) Sickle Cell Anemia.  Healthline.  Retrieved from https://www.healthline.com/health/sickle-cell-anemia#risk-factors

JHM. (2021) Sickle Cell Disease.  John Hopkins Disease.  Retrieved from https://www.hopkinsmedicine.org/health/conditions-and-diseases/sickle-cell-disease

Mayo Clinic. (2020) Sickle Cell Anemia.  Mayo Clinic.  Retrieved from https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/diagnosis-treatment/drc-20355882

NIH. (2020) Sickle Cell Disease.  National Heart, Lung, and Blood Institute.  Retrieved from https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease

Heart Disease

The term heart disease is used when describing several condition.  Conditions which are included as types of heart disease are:

• Arrhythmia: an irregular heart rhythm.
• Atherosclerosis: hardening of arteries.
• Cardiomyopathy: condition that leads to the hardening or weakening of heart muscles.
• Congenital Heart Defects: irregularities that someone is born with.
• Coronary Artery Disease: buildup of plaque in arteries.
• Heart infections: infections caused by bacteria, viruses or parasites.
• Heart valve disease: damaged valves lead to narrowing, leaking, or improper closing.
• Myocardial Infarctions (Heart Attack): the flow of blood to the heart is disrupted.
• Congestive Heart Disease: the heart's ability to pump is diminished (MNT, 2020)(Healthline, 2017)(Mayo, 2021).

There are symptoms of each of these conditions.  Individuals may experience a myriad of symptoms or possibly no symptoms at all.  Symptoms for each of the conditions include:

• Arrhythmias: 
• lightheadedness
• racing heartbeat
• slow pulse
• fluttering
• fainting spells
• dizziness
• chest pain
• Atherosclerosis
• chest pain
• shortness of breath
• coldness in extremities
• numbness in extremities
• unusual/unexplained pain
• weakness in extremities
• Congenital heart defects
• blue tinged skin
• swelling in extremities
• shortness of breath
• fatigue
• irregular heart rhythm
• Coronary Artery Disease
• fatigue
• bloating
• swollen legs
• shortness of breath
• rapid pulse
• Heart infections
• chest pain
• weakness
• fatigue
• shortness of breath
• coughing
• fever
• chills
• skin rash
• Cardiomyopathy
• breathlessness
• swelling of legs, ankles and feet
• fatigue
• irregular heartbeats
• dizziness
• lightheadedness
• fainting
• Heart valve disease
• fatigue
• shortness of breath
• irregular heartbeats
• swollen feet or ankles
• chest pain
• fatigue
• Myocardial Infarction
• chest pain
• shortness of breath
• heart palpitations
• nausea
• stomach pain
• sweating
• arm, jaw, or leg pain
• chocking sensation
• swollen ankles
• fatigue
• irregular heartbeat (Mayo, 2020)(Healthline, 2017)(MNT, 2020).

There are several risk factors for Hear disease.  These risk factors of Heart disease include:

• Age:  increased risk with increased age.
• Sex:  although generally speaking men are at greater risk, risk for women increases after menopause.
• Family History:  having a positive family history for heart disease increases risk.
• Smoking: Nicotine and Carbon Monoxide damage blood vessels.
• Poor diet:  increased amounts of fat, salt, sugar and cholesterol increases risk.
• Hypertension: uncontrolled Hypertension hardens arteries.
• High Cholesterol: increased cholesterol level increases risk of plaque formation.
• Diabetes: Diabetes and Heart Disease share risk factors.
• Obesity: increased weight increases risk.
• Physical Activity: lack of exercise increases risk.
• Stress: damages arteries.
• Poor dental health: if antigens enter the blood, they can increase risk.
• Ethnicity: Native Americans have lower risk. (Mayo, 2020)(Healthline, 2017)(MNT, 2020).

In order to diagnose heart disease, a combination of a physical exam, blood tests, noninvasive tests and invasive tests should be completed.  During the physical exam, a family history and personal history should be completed.  Blood tests completed should include:

• Cholesterol levels
• High Sensitivity C-Reactive protein: test for inflammation
• Lipoprotien(a): type of cholesterol determined by genes
• Brain Natriuretic Peptide: protein made by heart and blood vessels.  More is released when heart is damaged.
• Troponin T: protein in heart muscle.  Increased levels associate with increased risk.

Both noninvasive and invasive tests can be done in order to diagnose heart disease and the type of heart disease.  

Noninvasive tests include:

• Electrocardiogram (EKG): records electrical signals of heart.
• Holter Monitoring: records heart rhythm for 24 to 72 hours.
• Echocardiogram: creates image of heart using sound waves.
• Stress Test: tests heart's response to exercise or medications.
• Cardiac Computerized Tomography: X-rays create a series of images of heart.
• Cardiac Magnetic Resonance Imaging: radio waves create series of images of heart.
• Carotid Ultrasound: provides imaging of carotid arteries.

Invasive tests include:

• Cardiac Catherization: a sheath is inserted in a vein or artery in groin or arm, guided by x-ray to the heart where pressure can be measured and dye can be injected to help view blood flow, blood vessels and valves. 
• Electrophysiology study: catheter used to attach electrodes to heart in order to send electric pulses and to record the heart's responses (Mayo, 2020)(Healthline, 2017)(MNT, 2020).

The treatment of heart disease depends on the type and severity of heart disease.  Treatments fall into three categories:  Lifestyle changes, medications, and surgery.

Lifestyle changes are:

• Diet: rich in fruits and vegetables
• Manage stress
• Control Diabetes
• Exercise
• Tobacco cessation
• Decrease alcohol consumption
• Maintain a healthy weight

Medications use may include:

• Anticoagulants (blood thinners): prevent blood clots.
• Antiplatelet therapies: prevent blood clots.
• Angiotensin-Converting Enzyme Inhibitors: cause blood vessels to expand lowering blood pressure.
• Angiotensin II Receptor Blockers: control blood pressure.
• Angiotensin Receptor Neprilysin Inhibitors: open narrowed arteries.
• Beta Blockers: decrease heart rate and blood pressure.  Treat arrhythmias and angina.
• Calcium Channel Blockers: decrease blood pressure and prevent arrhythmias through relaxing blood vessels.
• Cholesterol lowering medications: decrease cholesterol levels.
• Digitalis: increases heart's ability to pump.
• Diuretic: remove water in order to decrease heart's workload.
• Vasodilators: decrease blood pressure by relaxing blood vessels.
• Antiarrhythmics: treat irregular heart rhythms.
• Nitrates: treat angina and chest pain due to blocked blood vessels.

Surgeries that may be useful in correcting or treating heart conditions include:

• Coronary Artery Bypass Surgery: a healthy blood vessel is used to repair a blocked blood vessel.
• Valve Replacement/Repair: valve that is improperly functioning is replaced and repaired.
• Device Implantation: devices such as balloon catheters or pacemakers are implanted (Mayo, 2020)(Healthline, 2017)(MNT, 2020).

For resources and more information on heart disease go to the American Heart Association's, Heart Help website at https://www.heartfoundation.org.nz/your-heart/hearthelp.

To learn about Heart Disease, watch video below.

American Heart Association. (2021) Heart Help.  American Heart Association. Retrieved at https://www.heartfoundation.org.nz/your-heart/hearthelp

Healthline, (2017) Everything you need to know about Heart Disease.  Healthline.  Retrieved from https://www.healthline.com/health/heart-disease#symptoms-of-heart-disease

Mayo Clinic. (2020) Heart Disease.  Mayo Clinic.  Retrieved from https://www.mayoclinic.org/diseases-conditions/heart-disease/diagnosis-treatment/drc-20353124

Medical News Today. (2020) Everything there is to know about Heart Disease.  Medical News Today.  Retrieved from https://www.medicalnewstoday.com/articles/237191