Lecture 15 beta thalassemia

Question 1

Hemoglobinopathies are

Answer 1

inherited single-gene disorders that affect Hb production and
function.

Question 2

It is estimated that around —- of the world population carries a globin-gene
mutation; and in the majority of cases, it is inherited as an —- —-trait.

Answer 2

7%/ autosomal recessive trait

Question 3

thalassemias are—-

Answer 3

quantitative hemoglibonpathies/ inherited disorder of hemoglobin synthesis that results in the reduction
of the total hemoglobin in the body leading therefore to anemia.

Question 4

thalassemia in greek means —- and is found in countries around —

Answer 4

disease of the blood related to the sea/ africa, asia, the meditereanead

Question 5

Anemias can be due to difficulties (among other things) in the formation of —– or of —–

Answer 5

Heme (Iron
deficiency anemia)/globin chain synthesis (Hemoglobinopathies).

Question 6

thalassemias are classified according to which—/ the main types are

Answer 6

globin chain is syntheiszed at a reduced rate / alpha and beta

Question 7

HbF is normally present in high concnetrations during fetal life but it falls rapidyly —and assumes the normal adult level of —

Answer 7

after birth/ 1% or less after the age of 6 months

Question 8

Beta zero mutations —-so no HbA expresson at all
while beta plus mutations—so a small amount of adult Hb is to be made

Answer 8

eliminate expresission of genes while beta plus mutations reduce expression of genes

Question 9

thalassemia diseases are classified into

Answer 9

transfusion-dependent thalassemia
(thalassemia major) and non-transfusion-dependent thalassemia (thalassemia intermedia)

Question 10

frontal bossing

Answer 10

Frontal bossing refers to an abnormal prominence or enlargement of the forehead

Question 10

diagnosis of beta thalassemia

Answer 10

Hct, Hb, RBC, RBC indices