Sickle Cell Glossary

Acute Chest Syndrome(ACS)

A

symptoms occur when sickle cells are lumped together, in the capillaries of the lung (s); causing chest pain, low oxygen levels, cough, and fever.

Adakveo

A

crizanlizumab is a new FDA-approved drug that binds to the P-selectin of red blood cells, causing them to be less sticky over time.

Anemia

A

a condition characterized by a low number of healthy red blood cells prohibiting red blood cells from being able to carry sufficient amounts of oxygen throughout the body.

Allele

A

one, two, or more versions of a variant gene located on any given site on the chromosomes.

Aplastic Crisis

A

the temporary shutdown of the red blood cell production in the bone marrow, caused by the Parvovirus B-19 (B19V) virus.

Avascular Necrosis (AVN)

A

when the blood supply is cut off from the bone, causing death to the tissue. AVN is also called osteonecrosis..

Bone Crisis

B

severe bone pain caused when sickle cells impede the flow of red blood cells.

Bone Marrow

B

the white soft, spongy, holey tissue found in the bone. The body's red blood cells are developed, delivered, and stored here.

Bone Marrow Transplant (BMT)

B

a procedure where a recipient receives healthy stem cells from a donor to possibly be cured of sickle cell disease.

Bilirubin

B

an orangish, yellowish substance formed when heme (red blood cells) die.

Capillaries

C

the tiniest of blood vessels.

CAT Scan

C

a computerized tomography scan that creates a cross-sectional image of the body.

Charge Nurse

C

the lead nurse on a floor who is responsible for the management of the unit.

Chelation

C

a therapy used to remove extra iron and toxic minerals in excess from the bloodstream.

Cholelithiasis

C

a hard pebble made of bile that forms in the gallbladder.

Chromosomes

C

are thread-like long DNA molecules made of protein that carry hereditary information in the form of genes.

Complete Blood Count (CBC)

C

a group of blood tests evaluating the health of a persons blood.

CRISPR (Cas9)

C

a newer technology used to edit genetic code, by cutting the error and replacing the error with new instructions.

Dactylitis

D

hand-foot syndrome, characterized by a baby experiencing pain, while screaming out of control because of the clumping of sickled cells that leads to swelling, and inflammation of a baby's hands and/or feet. Often the first symptom of sickle cell disease.

Dehydration

D

when more water and fluids leave the body than enter it.

Endari

E

a medication used to increase circulation in the blood by neutralizing the oxidative of stressed sickle cells. The active ingredient in this medication is L-glutamine.

Exchange, Blood

E

an exchange transfusion is a medical procedure that's done by removing and replacing a person’s blood or plasma with a donor's blood or plasma. The medical definition of an exchange transfusion is the simultaneous withdrawal of the recipient's blood and transfusion with the donor's blood.

Fetal Hemoglobin

F

is a dominant form of hemoglobin present in the blood of a fetus and newborn.

Folic Acid

F

the synthetic form of folate, which is a naturally occurring B vitamin used to support the development of red blood cells.

Frequent Flyer

F

a derogatory term used to characterize a patient who frequents the ER frequently.

Genotype

G

is the genetic makeup of an individual's collection of characteristics or traits.

Gene

G

a basic unit of hereditary occurring on a specific unit of the chromosomes.

Genetic Counselor

G

a healthcare professionals who work with individuals and families to educate and provide genetic guidance and counseling on genetics.

Gene Mutation

G

an alteration occurring in the DNA sequence, due to a mistake (s), or when the DNA is copied or becomes changed because of environmental factors.

Globin

G

any group of heme that contains proteins constituting hemoglobin.

Glutamic Acid

G

a non-essential α-amino acid used to form protein.

Haplo Transplant

H

a half-matched stem cell transplant from a family donor such as a parent (s), a child, or siblings.

HB S Polymerization

H

when small molecules, known as monomers, combine chemically to create a large chain structure.

Hematocrit

H

a test used to measure the volume percentage of red blood cells in a person’s body.

Hematuria

H

the presence of red blood cells in the urine.

Hematologists

H

a Doctor who specializes in the study and treatment of blood disorders.

Hemoglobin A

H

the most common type of protein found in the red blood cells that is responsible for carrying oxygen throughout the body.

Hemoglobin A2

H

a normal variant of protein with two alpha and two delta chains.

Hemoglobin C

H

a hemoglobin variant with a single amino acid substitution, lysine for the glutamate, causing the red blood cells to crystallize.

Hemoglobin C Trait (AC)

H

the second most inherited variant characterized by the protein's inability to hold oxygen, and carry oxygen throughout the body.

Hemoglobin D (Punjab or Los Angeles)

H

a hemoglobin variant with a single substitution of glutamine for glutamic acid causing red blood cells to be smaller in size.

Hemoglobin D Trait

H

a more rare inherited variant characterized by the protein's inability to hold oxygen, and carry oxygen throughout the body.

Hemoglobin Electrophoresis

H

a blood test that applies an electric current to measure the different types of hemoglobin in a red blood cell sample.

Hemoglobin S Trait (AS)

H

an inherited variant characterized by the protein's inability to hold oxygen, causing sickling.

Hemolysis

H

the rapid rupturing and destruction of red blood cells.

Hemolytic Anemia

H

a blood disorder that occurs when the bone marrow cannot replace destroyed red blood cells faster enough.

Heterozygous

H

when a person inherits two different versions of a gene. For example, hemoglobin SC.

Homozygous

H

when a person inherits the identical version of a gene, twice. For example, hemoglobin SS.

Hydroxyurea

H

a chemo agent used to help the body create more fetal hemoglobin.

Infarcts

I

an area of tissue that is dead, as a result of the restriction of blood flow.

Inherit

I

the acquisition of genetic information, characteristics, traits, and/or disorders transferred from parents to their child.

Iron

I

a mineral our bodies need for many functions. Iron is a part of hemoglobin. It helps the muscles store energy and use oxygen. Iron is also part of many other proteins and enzymes.

Iron Overload

I

when iron builds up in the blood stream from frequent blood transfusions.

Iron Deficiency

I

anemia is caused by a shortage of iron in the body.

Ischemia

I

the restriction of healthy blood supply to organs or tissue.

Jaundice

J

the yellowing of the skin or whites of the eyes due to excessive bilirubin.

Lysine

L

a basic amino acid that is one of the building block of protein.

Magnetic Resonance Imaging (MRI)

M

a medical imaging machine that scans the body to produce detailed images of the human body.

Malaria

M

a serious life-threatening disease caused by a parasite that is transmitted to the host by a mosquito.

Medical Port

M

a small medical device usually inserted under the chest to deliver medication directly to the body.

Microcytosis

M

when red blood cells are identified as smaller than the norm.

MoyaMoya Disease

M

a rare, but progressively dangerous disorder, caused by the blockage of blood flow in the arteries of the brain.

Narcotics

N

a medication used to treat moderate to severe pain.

Nephrologist

N

a doctor who specializes in the treatment of diseases of the kidneys.

Newborn Screenings

N

a mandated test used in the USA, to test all newborns for genetic conditions, such as sickle cell disease or cf, by pricking the heel of a newborn.

Nurse Practitioner

N

a registered nurse with advanced education and training who is qualified to treat certain medical conditions without the direct supervision of a medical physician.

Nucleic Acid

N

a large complex chemical compound of nucleotides that acts as the storage for genetic material inside of a cell.

Oncologist

O

a medical physician who specializes in the study, diagnosis, and treatment of cancer or other disorders such as SCD.

Oxbryta

O

an FDA-approved medication known as Voxelotor clinically proven to increase a person's hemoglobin.

Oxygen

O

a colorless and odorless gas which is responsible for fueling cells and life.

Pain Crisis

P

an acute uncontrolled and painful event,caused by the clumping of red blood cells in capillaries.

Patient Advocate

P

an individual who helps patients navigate the healthcare system.

Penicillin

P

an antibiotic used as a prophylactic treatment in children 6 months to five years old, and older children and adults without a spleen, this medication is used to prevent the transmission of the pneumococcal infection.

Physician Associate

P

a medical professional who is trained under a medical model similar to that of a physician and work's under the supervision of a doctor, to provide an array of medical treatments.

Pica

P

a disorder where one desires to eat things that are of no nutritional value, such as ice or chalk.

Point Mutation

P

a change within a gene in which a single base pair alters for one nucleotide in a gene sequence.

Pneumonia

P

an infection that inflames the air sacs of one or both of the lungs; it is caused by a chemical irritants, bacteria, viruses, and fungi.

Priapism

P

an extremely painful erection of the penis, caused by the clumping of sickled cells in the capillaries of the penis.

Prophylactic

P

a course of any medication given to prevent disease.

Punnett Square

P

a square table or diagram used to discover the probability of a person's chances of inheriting a specific gene combination from his or her parents.

Q

Red Blood Cell (RBCs)

R

the cells that are responsible for delivering oxygen to vital organs of the body.

Reticulocyte Count

R

a lab test used to measure the number of new red blood cells in the body.

Retinopathy

R

a damage occurring in the retina, when sickled cells occlude tiny blood vessels.

Sickle Cell Infusion Clinic

S

a day hospital or clinic used as an alternative to the emergency department for the delivery of tailored expedited care for SCD patients in crisis.

Sickle Cell Warrior

S

a term of endearment for a strong individual born with sickle cell disease.

Sickle Cell Beta Thalassemia Plus

S

an inherited blood disorder characterized by the presence of the sickle gene S and the beta-thalassemia gene.

Sickle Cell Beta Thalassemia Zero

S

an inherited blood disorder characterized by the presence of the sickle gene S and the beta-thalassemia 0, where the body produces no normal hemoglobin.

Sickle Cell Trait (AS)

S

a person who is a carrier of one inherited abnormal gene, from one parent and another normal gene, from the other parent.

Sickler

S

a derogatory term coined by medical professionals in the late ’80s and ’90s, used to negatively describe a person who lives with sickle cell disease. .

Silent Stroke

S

a stroke that does not cause noticeable symptoms, due to the interruption of blood flow in the brain because of sick cells clumping in tiny blood vessels.

Spleen

S

a minor organ that’s responsible for filtering blood, and removing old blood from the body.

Splenomegaly

S

the occurrence of an enlarged spleen.

Splenic Sequestration

S

when sickle cells are trapped in the spleen. This leads to terrible pain, infections, and is life-threatening, if the person is not treated.

Tachycardia

T

excessively high and rapid beating of the heart.

Telemedicine

T

the practice of using technology to deliver healthcare services.

Thalassemia

T

a group of inherited blood disorders caused by a gene mutation impacting the red blood cell's ability to carry oxygen to vital tissues and organs. ● Alpha thalassemia: occurs when a mutated gene or genes related to the alpha-globin hemoglobin goes missing or changes. ● Beta thalassemia: occurs when gene defects affect the production of the beta-globin hemoglobin.

Thalassemia Trait

T

a genetic carrier who only carries one abnormal and one normal hemoglobin gene.

Transfusion

T

the transfer of blood or blood components from donor to recipient.

Ulcers

U

a break in the skin that erodes the skin's mucous membrane.

Valine

V

an amino acid made up of protein.

Vaso-Occlusive Crisis (VOC)

V

when sticky sickle cells clump and lump together obstructing the flow of red blood cells resulting, in excruciating pain.

Vein Finder

V

an infrared device used to increase the likelihood of finding a vein.

Vitamin A

V

retinol is a fat-soluble vitamin stored in the liver; it helps the body maintain good vision, and a healthy immune system.

Vitamin B

V

a water-soluble vitamins that help cells metabolize and assisting the body converison of food into energy.

Vitamin C

V

ascorbic acid is a water-soluble carbohydrate, involved in helping in specific metabolic processes; this particular vitamin also, assists the body in the production of collagen.

Vitamin D

V

a group of fat-soluble nutrients which assists the body’s ability to absorb calcium and phosphorus.

Withdrawal

W

the mental and physical stress of the body that happens when narcotics are abruptly stopped or when a person is weaned off their pain medication.

White Blood Cell Count

W

a blood test that measures the number of white blood cells in the body.

X-Ray

X

a photo image obtained by electromagnetic radiation.

Y,Z