Thalasemia Flashcards
(15 cards)
Is thalassemia a common cause of anemia in pregnancy?
No, thalassemia is not the most common cause; iron-deficiency anemia is more common in pregnancy.
What are thalassemias?
Thalassemias are hereditary hemoglobin disorders caused by mutations in α- or β-globin chains.
What causes alpha-thalassemia?
Defects in 1 to 4 α-globin genes. Severity increases with the number of defective genes.
What is HbH disease in alpha-thalassemia?
It involves 3 defective α-globin genes and causes chronic hemolysis and iron overload.
What is Hb Barts in alpha-thalassemia?
It involves 4 defective α-globin genes and is incompatible with life.
Who is most affected by alpha-thalassemia?
It is most common in individuals of Southeast Asian descent.
What causes beta-thalassemia?
Mutations in the β-globin gene, leading to reduced or absent β-chain synthesis.
Who is most affected by beta-thalassemia?
Beta-thalassemia is common among individuals from Cyprus and Asia.
What is beta-thalassemia major?
A severe form that requires frequent blood transfusions and may lead to iron overload.
How is thalassemia diagnosed?
Using hemoglobin electrophoresis, globin chain synthesis studies, or DNA analysis.
What is the role of iron supplementation in thalassemia?
Iron should only be given if there is proven deficiency, as patients are at risk of iron overload.
What supplementation is recommended for pregnant women with thalassemia?
Daily folic acid 5 mg.
Why is genetic counseling important in thalassemia?
To assess the risk of having a child with thalassemia major, especially in at-risk couples.
What are the complications of transfusion-dependent thalassemia?
Iron overload causing endocrine, hepatic, and cardiac dysfunction; heart failure is a major cause of death.
How are risks in severe thalassemia reduced?
By using iron-chelating therapy and considering bone marrow transplantation.
