Beta_Thalassemia_Major_Flashcards
Which chromosome is affected in Beta Thalassemia Major?
Chromosome 11 is affected in Beta Thalassemia Major.
What is the prognosis for Beta Thalassemia Major without regular blood transfusions?
Beta Thalassemia Major is fatal without regular blood transfusions.
What is the aim of regular blood transfusions in Beta Thalassemia Major?
The aim of regular blood transfusions in Beta Thalassemia Major is to maintain the Hb concentration > 100 g/L to reduce growth failure and prevent bone deformation.
What complications can arise from repeated blood transfusions in Beta Thalassemia Major?
Complications from repeated blood transfusions in Beta Thalassemia Major include iron overload, which can lead to cardiac failure, liver cirrhosis, diabetes, infertility, and growth failure.
How is iron overload managed in patients with Beta Thalassemia Major?
Iron overload in patients with Beta Thalassemia Major is managed with iron chelation using SC desferrioxamine or oral deferasirox.
What is the expected survival with good compliance with transfusion and chelation in Beta Thalassemia Major?
Good compliance with transfusion and chelation in Beta Thalassemia Major is associated with a high probability of surviving beyond 40 years.
What is the only cure for Beta Thalassemia Major and when is it used?
The only cure for Beta Thalassemia Major is bone marrow transplantation, which is reserved for children with an HLA-identical sibling.
When might a splenectomy be required in Beta Thalassemia Major?
A splenectomy may be required in Beta Thalassemia Major in certain cases.
What management is recommended for individuals with the Beta Thalassemia trait?
Management for individuals with the Beta Thalassemia trait includes genetic counselling and iron advice.
How is prenatal diagnosis of Beta Thalassemia performed?
Prenatal diagnosis of Beta Thalassemia is performed via chorionic villus sampling.
