HEMA LEC - Thalassemias

Question 1

group of inherited disorders causing genetic mutations that reduce or prevent synthesis of one or more globin chain

Answer 1

thalassemis

Question 2

thalassemia is characterized by __ rbcs

Answer 2

microcytic/hypochromic

Question 3

first described children with anemia

Answer 3

thomas cooley and pearl lee

Question 4

nonspecific or general classif of thal
severe course of thalasemia
either no alpha or beta chain produced

Answer 4

homozygous

Question 5

nonspecific or general classif of thal

milder anemia; carriers

Answer 5

heterozygous

Question 6

defects that cause a decrease or absent production of particular globin [3]

Answer 6

point mutation
small insertions or deletions
large deletions

Question 7

specific thal categories

Answer 7

alpha thalassemia

beta thalassemia

Question 8

premature death of rbc precurosrs in BM

Answer 8

ineffective erythropoiesis

Question 9

anemia in thalassemia is due to 2 main components

Answer 9

ineffective erythropoiesis

extravascular hemolysis in RES esp spleen

Question 10

imperfect extravascular hemolysis produces __

Answer 10

nucRBCs and tear drop rbcs

Question 11

mildest form of B thal

Answer 11

silent carrier state

Question 12

heterozygous disorder resulting in mild hypochromic, microcytic, hemolytic anemia

Answer 12

B thalassemia minor

Question 13

severity lies between major and minor

Answer 13

B thalassemia intermedia

Question 14

homozygous disorder resulting in severe life long transfusion-dependent hemolytic anemia

Answer 14

B thalassemia major

Question 15

thalassemias are Named according to the ?

Answer 15

chain with reduced or absent synthesis

Question 16

Decreased or absent synthesis of one of the globin gene
chains not only leads to decreased but also ________


Answer 16

in imbalance in the alpha/beta chain ratio hb

production

Question 17

third component that contributes to the severity of anemia that may also worsen the anemia

Answer 17

splenomegaly

Question 18

how may splenomegaly worsen anemia

Answer 18

bec of 2 components:

1) increased sequestration
2) increased plasma volume caused by splenomegaly (dilutional)

Question 19

____occurs, which also contributes for the splenomegaly,

Answer 19

Extramedullary erythropoiesis

Question 20

Are various heterozygous (from one parent) β gene mutations that produce only small decrease in production of β globin chains.
•   Patients have nearly normal alpha/beta chain ratio and no hematologic abnormalities.
• Have normal levels of HbA2

Answer 20

Silent Carrier State for β-Thalassemia

Question 21

Decreased rate of synthesis of one of the beta chains; other beta chain normal

Answer 21

β Thalassemia Minor (Trait)

Question 22

• Caused by heterozygous (from one parent) mutations that affect β globin synthesis.

Answer 22

β Thalassemia Minor (Trait)

Question 23

• β Chains production and thus Hb-A production is more reduced than the silent carrier Hb-A.

Answer 23

β Thalassemia Minor (Trait)

Question 24

•       Have one normal β gene and one mutated β gene.

Answer 24

β Thalassemia Minor (Trait)

Question 25

• Usually presents as mild, asymptomatic hemolytic anemia unless patient in under stress such as pregnancy, infection, or folic acid deficiency.

Answer 25

β Thalassemia Minor (Trait) or B thalassemia Intermedia

Question 26

anemia usually hypochromic and microcytic w/ slight aniso and poik, including target cells and elliptocytes; may also see basophilic stippling

Answer 26

β Thalassemia Minor (Trait)

Question 27

rarely see hepatomegaly or splenomegaly

Answer 27

β Thalassemia Minor (Trait)

Question 28

have high Hb A2 levels (3.6-8.0%) and normal to slightly elevated HbF levels

Answer 28

β Thalassemia Minor (Trait)

Question 29

B thalassemia that normally requires no treatment

Answer 29

β Thalassemia Minor (Trait)

Question 30

confused with IDA

Answer 30

β Thalassemia Minor (Trait)

Question 31

uses Mentzer index

Answer 31

β Thalassemia Minor (Trait)

Question 32

markedly decrease rate of synthesis or absence of both beta chains results in an excess of alpha chains, no Hgb A can be produced; compensate with up to 90% Hgb F

Answer 32

β Thalassemia Major/Cooley's Anemia

Question 33

Excess alpha chains precipitate on the RBC membrane, form Heinz bodies, and cause rigidity; destroyed in the bone marrow or removed by the spleen

Answer 33

β Thalassemia Major/Cooley's Anemia

Question 34

Symptomatic by 6 months of age; hepatosplenomegaly, stunted growth, jaundice, prominent facial bones (Esp cheek and jaw); iron overload from RBC destruction and multiple transfusions cause organ failure

Answer 34

β Thalassemia Major/Cooley's Anemia

Question 35

profound anemia stimulates an increase in EPO production by kidneys and results in massive but ineffective erythroid hyperplasia

Answer 35

β Thalassemia Major/Cooley's Anemia

Question 36

marked bone changes and deformities occur due to massive BM expansion

Answer 36

β Thalassemia Major/Cooley's Anemia

Question 37

thalassemia major life expectancy | Without regular transfusion –

Answer 37

Less than 10 years

Question 38

thalassemia major life expectancy | With regular transfusion and no or poor iron chelation

Answer 38

Less than 25 years

Question 39

thalassemia major life expectancy | With regular transfusion and good iron chelation

Answer 39

40 years, or longer??

Question 40

iron chelator

Answer 40

desferoxamine

Question 41

Have varying symptoms of anemia, jaundice, splenomegaly and hepatomegaly

Answer 41

B thalassemia intermedia

Question 42

have significant increase in bilirubin levels

Answer 42

B thalassemia intermedia

Question 43

anemia usually becomes worse with infections, pregnancy or folic acid deficiency

Answer 43

β Thalassemia Minor (Trait) or B thalassemia intermedie

Question 44

MAY become transfusion dependent

Answer 44

B thalassemia intermedia

Question 45

tend to develop iron overloads as a result of increased gastrointestinal absorption

Answer 45

B thalassemia intermedia

Question 46

usually survive into adulthood

Answer 46

B thalassemia intermedia