Haemoglobinopathies Lecture Review

Flashcards covering key vocabulary and concepts related to haemoglobinopathies, including types, mutations, and implications in genetic disorders.

Haemoglobinopathy

Genetic disorders affecting the hemoglobin in red blood cells, including conditions like sickle cell anemia and thalassemia.

Sickle Cell Anemia

A genetic disorder caused by a mutation in the beta-globin gene (Hb S), leading to the distortion of red blood cells.

Thalassemia

A group of inherited disorders characterized by reduced or absent synthesis of the globin chains of hemoglobin.

Tetrameric Structure

The structure of human hemoglobin, composed of two alpha-like and two beta-like globin chains.

Alpha-thalassemia

A form of thalassemia caused by reduced or absent synthesis of alpha-globin chains.

Beta-thalassemia

A form of thalassemia caused by reduced or absent synthesis of beta-globin chains.

Mutation

A change in the DNA sequence that can affect gene function and lead to disorders.

Enhancer

A regulatory DNA sequence that increases the likelihood of transcription of a particular gene.

Frameshift Mutation

A genetic mutation caused by insertions or deletions in DNA that shifts the reading frame of the gene's coding sequence.

Gene Deletion

A mutation in which a part of a chromosome or a sequence of DNA is lost during DNA replication.

Clinical Features

Symptoms or signs associated with a particular disease or condition.

Genetic Counseling

A process to evaluate and understand a family's risk of an inherited medical condition.

Long-term Transfusion

A treatment approach for chronic hemoglobinopathies involving regular blood transfusions to manage anemia.

Gene Therapy

An experimental technique that uses genes to treat or prevent disease.