thalassemia

Question 1

what type of anemia is associated with thalassemia ?

Answer 1

microcytic anemia

Question 2

what is the cause of thalassemia ?

Answer 2

associated with underproduction or absent production of either alpha or beta chains

Question 3

what are the components of Hb a vs F vs A2?

Answer 3

hb A - 2 alpha chains and 2 beta chains
HbA2 - 2 alpha chains and 2 delta chains
hbF - 2 alpha chains and 2 delta chains

Question 4

what is the diagnostic approach for thalassemia ?

Answer 4

electrophoresis

Question 5

what is the difference in presentation between thalassemia minor and thalassemia major ?

Answer 5

minor is almost asymptomatic
the only severe one is thalassemia major

Question 6

where are the genes that code for alpha chains located ?

Answer 6

found on chromosome 16

Question 7

what are the different presentation associated with the different alpha thalassemia ?

Answer 7

1 alpha gene missing - associated with alpha thalassemia minor

2 alpha genes missing - associated with alpha thalassemia minor (alpha thalassemia trait)

3 alpha genes missing - HbH disease excess beta globin present

all 4 are missing is associated with hydrps fetalis and barts disease

Question 8

what are the two variants associated with alpha thalassemia minor ?

Answer 8

the cis variant and the trans variant

Question 9

which variant of alpha thalassemia is more likely to be passed on to offspring ?

Answer 9

the cis variant

Question 10

when does HbH disease present ?

Answer 10

after birth because there is no more Hbf , just beta chains a tetramer of beta chains is formed

Question 11

what is the presentation associated with HBH ?

Answer 11

hypochromic microcytic anemia
low kol 7aga
evidence of hemolysis - splenomegaly ( not present in IDA)

Question 12

how is HbH disease diagnosed ?

Answer 12

DNA testing

Question 13

what is the treatment of HbH disease ?

Answer 13

splenectomy
transfusion

Question 14

what is the risk for repeated transfusion ?

Answer 14

iron overload

Question 15

what is the prognosis of HbH ?

Answer 15

hydrops fetalis - they dont live

Question 16

where are the genes for the formation of beta chains ?

Answer 16

2 genes for each chain that is present on chromosome 11 mutation not deletion

Question 17

what are the two types of beta thalassemia ?

Answer 17

thalassemia major and minor
minor is associated with mutation in one gene - heterozygous
major is in both genes - homozygous

Question 18

what is the presentation associated with beta thalassemia minor ?

Answer 18

usually asymptomatic

Question 19

how is beta thalassemia minor diagnosed ?

Answer 19

by electrophoresis
increased levels of HbA2 ( because no beta chains required)
increased levels of HbF

Question 20

what is the other name associated with beta thalassemia major ?

Answer 20

cooley’s anemia

Question 21

what are the pripheral blood smear abnormalities seen in beta thalassemia major ?

Answer 21

microcytosis
hypochromia
anisocytosis ( increased RDW)
poikilocytosis
basophilic stippling
nucleated RBC
target cells

Question 22

what is the pathology that is associated with target cells ?

Answer 22

increase surface area volume

Question 23

why does basophilic stippling happen ?

Answer 23

residual RNA in red cells

Question 24

when do we see basophilic stippling ?

Answer 24

sideroblastic anemia
lead poisoning
thalassemia

Question 25

what are the findings associated with sideroblastic anemia ?

Answer 25

pappenheimer bodies basophilic stippling iron granules sideroblastic rings

Question 26

what are the diseases associated with target cells in blood smear ?

Answer 26

HALT HbC disease Asplenia liver disease thalassemia

Question 27

what is erythroid hyperplasia ?

Answer 27

associated with beta thalassemia major associated with chipmunk facies crew cut appearance of the skull on x ray associated with skeletal malformation all because the bone marrow is trying to form more EPO - no normal response tho

Question 28

when do patients with thalassemia major become symptomatic ?

Answer 28

6 months after life after the depletion of hemoglobin f

Question 29

what type of gallstones are associated with beta thalassemia major ?

Answer 29

pigment

Question 30

what are the consequences of extramedullary hematopoeisis ?

Answer 30

production of nucleated RBCs hepatosplenomegaly

Question 31

what risk is carried with patients who have beta thalassemia major ?

Answer 31

infection with parvovirus b19 that ends in aplastic crisis

Question 32

what are the electrophoresis levels associatewd with beta thal major ?

Answer 32

increased hbA2 and Hbf

Question 33

what are the diseases associated with increased RDW ?

Answer 33

iron deficiency anemia major thalassemia but normal in mild thalassemia

Question 34

what is the gene problem associated with beta thalassemia ?

Answer 34

impaired mRNA splicing