MLT 251 - Hemoglobinopathies + Thalassemias TERMs

Hemoglobinopathy

A group of disorders caused by abnormalities in the structure or production of hemoglobin, leading to various clinical manifestations and symptoms.

Thalassemia

A genetic blood disorder characterized by reduced or absent production of hemoglobin, leading to anemia and other complications.

Homozygous

A genetic condition where an individual has two identical alleles for a particular gene, often leading to more severe disease manifestations.

Heterozygous

A genetic condition where an individual has two different alleles for a particular gene, resulting in varying expression of traits associated with that gene.

Zygosity

The genetic makeup determines whether an individual has identical or different alleles at a particular gene locus.

Hereditary

Blood disorders passed through genes

Gene

A unit of heredity made up of DNA that is responsible for specific traits in an organism.

Allele

Different forms of a gene that exist at the same locus on homologous chromosomes.

Mutation

A change in the DNA sequence of a gene that can lead to alterations in gene function or trait expression.

Trait

A characteristic or feature of an organism that can be influenced by genetics and environmental factors.

Affinity

The strength of the bond between a receptor and its ligand, or the degree to which hemoglobin binds oxygen.

Embryonic

Hemoglobin is present in early development stages.

Globin

A group of proteins that bind oxygen, forming a key component of hemoglobin.

Variants

Of globin genes that can affect hemoglobin structure and function.

Deletion

A type of mutation where one or more nucleotides are removed from the DNA sequence.

Asymptomatic

A condition in which an individual does not show any signs or symptoms of a disease or disorder, despite being affected by it.