A
Adenine: One of the four bases that make up DNA. Abbreviated with an 'A'.
Alpha globin: A blood protein found in the red blood cells. Alpha and beta globins combine to make hemoglobin, which carries oxygen.
Anemia: A medical condition where there is a shortage of red blood cells.
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B
Base: A small molecule inside the larger molecule of DNA. Bases - A, C, G, and T - are arranged in line in a DNA molecule (e.g. CGGTACAGG) and encode instructions for making proteins.
Beta globin: A blood protein found in red blood cells that when absent or at abnormally low levels leads to the condition known as thalassemia. Beta and alpha globins combine to make hemoglobin, which carries oxygen.
Beta-thalassemia: a.k.a. Cooley's anemia and thalassemia major. It is the most serious of the inherited thalassemias where no beta globin is produced.
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C
Carrier: A person that carries a gene that causes a disorder, but does not show symptoms.
Chromosome: Chromosomes are packages of DNA found in the nucleus of cells. Humans have 46 chromosomes.
Cooley's anemia: Another name for the condition known as beta-thalassemia or thalassemia major.
Cytosine: One of the four bases that make up DNA. Abbreviated with a 'C'.
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D
DNA: Short for deoxyribonucleic acid, DNA is the molecule that carries genetic information.
Delta globin: A blood protein found in the red blood cells. Alpha and gamma globins combine to make hemoglobin A2 -- a secondary adult hemoglobin used to carry oxygen.
Desferal: A chelating agent used to remove iron from the blood.
Dominant: Refers to genetic disorders in which a person only needs one copy of the mutated gene to develop the disorder.
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G
Gamma globin: A blood protein found in the red blood cells. Alpha and delta globins combine to make hemoglobin F -- the type of hemoglobin most dominant in fetal life for carrying oxygen.
Gene: A portion of DNA that contains instructions for making a protein.
Genotype: The genetic composition of a person. Usually used when considering one gene or chromosome (e.g., males have a XY genotype, females have a XX).
Guanine: One of the four bases that make up DNA. Abbreviated with a 'G'.
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H
Heme: A molecule that binds to oxygen. There is one heme per beta or alpha globin and thus four hemes per hemoglobin molecule.
Hemoglobin: A protein found in the red blood cell, two beta globins, two alpha globins and four hemes combine to make one hemoglobin molecule. Hemoglobin carries and delivers oxygen to the cells.
Hemoglobin A2: A protein found in the red blood cell, two gamma globins, two alpha globins and four hemes combine to make one hemoglobin A2 molecule. Hemoglobin A2 is the secondary adult hemoglobin used to carry and deliver oxygen to the cells.
Hemoglobin F: A protein found in the red blood cell, two delta, two alpha and four hemes combine to make one hemoglobin F molecule. Hemoglobin F are the dominant fetal hemoglobin used to carry and deliver oxygen to the cells.
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P
Protein: A type of molecule produced by the body. The instructions for producing proteins reside in the genes.
Punnett square: A method of showing the potential offspring of two parents.
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R
Recessive: Refers to genetic disorders in which a person must have two copies of the mutated gene to develop the disorder.
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T
Thalassemia intermedia: An inherited version of thalassemia where some beta globin is made. The severity of the symptoms depends on how much beta globin is present.
Thalassemia major: The most serious of the inherited thalassemias where no beta globin is made. Without regular treatment (blood transfusions and iron removal) death can result.
Thalassemia minor: People with thalassemia minor are carriers of the beta globin mutation for thalassemia major. They may have mild anemia and show other symptoms.
Thymine: One of the four bases that make up DNA. Abbreviated with a 'T'.
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