10 Questions
What is the estimated number of β-thalassemia–causing variants identified in the HBB gene?
350
What is the result of reduced or absent production of β-globin in individuals with β-thalassemia?
An excess of unpaired α-globin chains
What is the composition of the predominant form of adult hemoglobin, HbA?
2 α-globin chains and 2 β-globin chains
In which cells do unpaired α-globin chains accumulate in β-thalassemia?
Erythroid progenitor cells
What is the role of genetic context in the severity of β-thalassemia?
It plays a complex role in the severity of the disease
What type of mutation are β-thalassemia–causing variants often?
Point mutations
Where are certain HBB mutations inherited more frequently?
In certain regions of the world
What is the consequence of an excess of unpaired α-globin chains?
Accumulation of α-globin chains in erythroid progenitor cells
What is the function of the HBB gene?
Production of β-globin chains
What is the result of the imbalance of α-globin to β-globin chain production?
Thalassemia
Learn about the pathologic outcomes of α-globin to β-globin chain imbalance, including chronic hemolytic anemia, ineffective erythropoiesis, and iron overload. Understand the effects of chronic inadequate oxygenation of tissue and premature red blood cell destruction.
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