Thalassemia Flashcards
In ____, the β-globin chain is underproduced.
β-thalassemia
What are the 3 main treatments of thalassemia?
1) transfusions 2) Increase Fetal Hemoglobin (α2γ2) Production 3) bone marrow transplants
In β-thalassemia, the _____ is underproduced.
β-globin chain
What is the genotype of Hemoglobin H disease?
- / - alpha
When are gamma chains produced?
in the fetus and newborn
What is the genotype for β-thalassemia major (Cooley’s Anemia)?
2 severely abnormal or absent genes
Hypothyroidism and/or impaired glucose tolerance may occur in 40-60% of patients with ____.
β-thalassemia major
What are some skeletal changes seen in thalassemias?
frontal bossing, osteopenia, marrow filled with RBC precursors
Name 3 drugs that induce HbF production.
Hydroxyurea, butyrate, and decitabine
What is the most common chelation agent?
deferoxamine
What is the genotype for β-thalassemia minor (β-thalassemia trait)?
1 normal and 1 abnormal gene
Nearly ___ of patients with Cooley’s anemia (β-thalassemia major) have abnormal endocrine function.
2/3
Hypothyroidism and/or impaired glucose tolerance may occur in ____ of patients with β-thalassemia major.
40-60%
What is the cause of alpha-thalassemia?
underproduction of the alpha-globin chain bc of an absence of one of the 4 alpha genes
What is deferoxamine?
the most common chelation agent
What is the genotype for HbEβothalassemia?
1 severely abnormal or absent Beta gene and 1 HbE gene
What is hemoglobin A1?
the predominant adult hemoglobin; alpha2beta2
What gland is often most affected in Cooley’s anemia?
the pituitary
Which alpha thalassemia shows anemia?
hemoglobin H disease
Which alpha thalassemia is transfusion dependent?
hemoglobin H disease
_____ and/or _____ may occur in 40-60% of patients with β-thalassemia major.
Hypothyroidism; impaired glucose tolerance
What is the genotype of hydrops fetalis?
- / - -
Nearly 2/3 of patients with _____ have abnormal endocrine function.
Cooley’s anemia (β-thalassemia major)
What is the genotype for HbEβ+thalassemia?
1 mild-moderately abnormal Beta gene and 1 HbE gene
