Thalassemia Flashcards
Thalassic is the Greek word for ____
Great sea
Thalassemia results from what?
Reduced or absemt synthesis of alpha or beta globin chains
Blood picture of thalassemia
Microcytic, hypochromic
What is the impaired globin chain in beta thalassemia?
Beta globin chains
Is beta thalassemia symptomatic or asymptomatic during the fetal life? Why?
Asymptomatic
Beta globin chains are not yet developed during that part of life. Hb F (alpha & gamma) is the predominant hemoglobin
Untreated patients with Beta thalassemia major has what bone changes/deformities in children?
Hair on end appearance
In children, excess iron causes:
Growth retardation
Absence of sexual maturity
In adults, excess iron causes:
Cardiomyopathy
Fibrosis
Cirrhosis
Dysfunctional exocrine glands
Elevated EPO level promotes the secretion of ____
Erythroferrone (ERFE)
What does Erythroferrone do?
Downregulates hepcidin
Blood picture of a silent carrier state of beta-thalassemia
Normocytic, normochromic
How does Beta-thalassemia minor differentiate from the major state?
Only 1 β-globin gene is mutated. This causes minor effects compared to the Beta-thalassemia
Reticulocyte count in Beta-thalassemia major
Increased
In alpha thalassemia, what globin chain is in excess for the fetus and newborn?
Gamma globin chain
Hb Bart is due to what?
Accumulation of gamma globin chains
Silent carrier state of Alpha-thalassemia is due to the deletion of ______
One α-globin gene
Alpha-thalassemia minor is due to the deletion of _____
Two α-globin gene
Blood picture of alpha-thalassemia minor
Mild microcytic, hypochromic anemia
Hb Bart is increased during _____
Fetal life
Alpha-thalassemia intermedia is also termed as _____
Hb H disease
Alpha-thalassemia intermedia is caused by the deletion of ______
Three α-globin gene
Hb H disease is common among ____
Asians
Hydrops fetalis symptoms and its cause
Heart failure, edema
Hb Bart’s high oxygen affinity
