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
What peripheral smear presentation can be confused with thalassemia trait?
iron deficiency anemia
What is the genotype of alpha-thalassemia silent carrier?
- alpha/ alpha alpha
What is the 20 year survival rate for thalassemics receiving a bone marrow transplant?
70%
Nearly 2/3 of patients with Cooley’s anemia (β-thalassemia major) have _____.
abnormal endocrine function
What cures thalassemia?
a bone marrow transplant
What is the genotype for Hb EE disease?
2 HbE genes
What is the genotype for β-thalassemia intermedia?
2 mild-moderately abnormal genes
Which beta thalassemia is always transfusion dependent?
β-thalassemia major (Cooley’s Anemia)
What is Hemoglobin E?
an abnormal, unstable hemoglobin due to a point mutation in the beta-globin gene
How is thalassemia diagnosed?
hemoglobin separation or genetic testing
What are the normal adult globin chains?
alpha with either beta and/or delta
What are the 2 common types of thalassemia?
alpha and beta
What is deferasirox?
an oral chelator w/ prelim. approval in the US
What is the problem with deferoxamine?
pt noncompliance- 5-7 admins/day
What is thalassemia?
underproduction of a hemoglobin chain due to mutations
What is the genotype of alpha-thalassemia trait?
- / alpha alpha or - alpha/ - alpha
What is the MCV for beta-thalassemias?
low
Which alpha thalassemia has low MCV?
alpha-thalassemia trait and hemoglobin H disease
What are hydroxyurea, butyrate, and decitabine used for?
to induce HbF production