Thalassemia

Question 1

Thalassemia;

? disorders of Hb ?, common in the Middle/ Far ?.
Caused by deficient alpha or beta chain synthesis, thus resulting in a- or b- thalassemia.

Answer 1

genetic
synthesis
east

Question 2

B-thalassemia minor (?);
o ? state, usually asymptomatic and gives a mild ? anaemia that may worsen in ?.
o Often confused with ?.
o HbA2 is ?, with slightly raised HbF also.

Answer 2

trait
carrier
microcytic
preg
ida
raised

Question 3

B-thalassemia major (?’’s anaemia);
o Abnormality in both ? genes, presenting within the a ? with severe anaemia, ? and failure to thrive.
o Extramedullary haematopoiesis results in ? ? .

Answer 3

cooleys
globin
hepatosplenomegaly
facial deformities

Question 4

B-thalassemia major
o Survival is possible due to ? (a2Y2)
o Blood film shows ? ? cells, also ? cells and ? RBCs.
o Management is with ? blood transfusions.

Answer 4

HbF
micro hypochromic
target
nucleated
lifelong

Question 5

a-thalassemias;

Bart’s ?;
o Deletion of all ? a-globin genes, leading to HbBarts (Y4)
o This is physiologically useless, and leads to ? in ?.

Answer 5

hydrops
4
death
utero

Question 6

a-thalassemias;

Deletion of 3 genes;
o Moderate ? anaemia with features of ?.
Deletion of 2 genes;
o ? carrier state with reduced ?.
Deletion of 1 gene;
o Clinically ?.

Answer 6

microcytic
haemolysis
aSx
MCV
normal

Question 7

Sideroblastic Anaemia;

Bone marrow produces ? ‘sideroblasts’ rather than ?, which can be seen in the bone marrow.
Can be a ? disorder, or more commonly acquired in ? syndrome.

Answer 7

ringed
erythrocytes
congenital
myelodysplastic