A test that can be performed to look for gallstones or other complications involving the gallbladder
Anemia:
A condition in which the blood has lower-than-normal levels of RBCs or hemoglobin
Aplastic crisis:
When the production of new RBCs temporarily stops
ATP:
The primary source of energy for cells
Autosomal recessive gene inheritance:
A genetic disease that is inherited from receiving 2 mutated copies of a gene
Bilirubin:
A substance released from RBCs when they break down, which can cause jaundice and scleral icterus
Cardiologist:
A doctor that specializes in heart disease
Catalyze:
To increase the rate of a chemical reaction
Cholecystectomy:
Surgical removal of the gallbladder
Chromosome:
A very long strand of DNA that’s stored in the cell’s nucleus and contains its genetic information. Each chromosome may contain hundreds to thousands of genes
Chronic:
Lasting a long time
Cognitive difficulties:
Problems associated with memory, language, thinking, and judgment
Deficiency:
A shortage of something
DNA:
The genetic material that tells a cell how to grow and what its job is
DXA (or DEXA) scan:
An X-ray performed to assess bone strength
Echocardiogram (echo):
A test assessing heart function and signs of pulmonary hypertension
Endocrinologist:
A doctor that specializes in conditions caused by problems with glands and hormones (endocrine diseases)
Enzyme:
A protein that catalyzes chemical reactions that occur inside the body
Enzyme assay:
A measurement, determined by a blood test, of how active an enzyme is
Extramedullary hematopoiesis:
Blood cell production occurring outside of the bone marrow, in organs such as the liver or spleen
Ferritin:
A blood protein that contains iron
Gallbladder:
An organ that stores and concentrates bile between meals
Gallstones:
Small stones that form in the gallbladder
Gastroenterologist:
A doctor that specializes in diseases affecting the digestive system
Gene:
Stretches of DNA. Different genes have different jobs, but many genes tell the proteins in our bodies how to work
Gene mutation:
A permanent change in the DNA sequence of a gene, altering the gene’s ability to make a protein and causing the protein to stop working properly
Glycolysis:
The process of RBCs converting glucose (sugar) into pyruvate and ATP
Hemoglobin:
A protein that helps RBCs carry the oxygen your body needs
Hemolysis:
The breakdown of RBCs, which leads to the release of hemoglobin and bilirubin into the blood
Hemolytic anemia:
A type of anemia that is caused by the early breakdown of RBCs in the bloodstream or by the spleen
Iron overload:
An excess of iron in the body
Jaundice:
Yellowing of the skin caused by high levels of bilirubin in the body
MRI:
A scan performed to look for iron overload in the liver and heart
Ophthalmologist:
A doctor that specializes in vision issues and eye disease
Osteopenia:
A decrease in bone mass or bone mineral density. In severe cases, it can progress to osteoporosis
Osteoporosis:
A severe form of osteopenia where the density and strength of bones are reduced
PKLR:
The gene for pyruvate kinase
PKR (pyruvate kinase in RBC):
The pyruvate kinase enzyme
Red blood cells (RBCs or erythrocytes):
Cells that carry oxygen throughout the body
Scleral icterus:
Yellowing of the whites of the eyes caused by high levels of bilirubin in the body
Spleen:
An organ that filters blood, helps support the immune system, and removes old or damaged blood cells from the body
Splenectomy:
Surgical removal of the spleen
Splenomegaly:
An enlarged spleen
Transfusion:
The process of putting blood into the bloodstream by intravenous (IV, meaning through the veins) infusion into the arm
Stay informed and up to date about the latest in PK deficiency.