Thalassemia

Question 1

Hb Barts is _______, and is an indicator of alpha thalassemia.

Answer 1

gamma4

Question 2

Hb H is ________, and is an indicator of alpha thalassemia.

Answer 2

beta4

Question 3

Portland and Gower are both _________.

Answer 3

embryonic hemoglobins present in the first trimester

Question 4

Quantitative disorders of hemoglobin are called ______, while qualitative disorders are called _______.

Answer 4

thalassemias; hemoglobinopathies

Question 5

What are four hematologic consequences of thalassemia?

Answer 5

Ineffective erythropoiesis leads to

• anemia
• bone marrow expansion
• extramedullary hematopoiesis
• increased intestinal iron absoprtion

Question 6

_____ mutations are more common in beta thalassemia, while _______ are more common in alpha thalassemia.

Answer 6

Point; deletions

Question 7

Underproduction of hemoglobin leads to ________.

Answer 7

• small RBCs
• low MCH and MCHC
• uniform RBC distribution width
• increased RBC production

Question 8

What are the clinical signs of thalassemia?

Answer 8

• increased hemolysis (raised lactate dehydrogenase and AST)
• splenomegaly
• bilirubin gallstones
• increased reticulocyte count

Question 9

Alpha-thalassemia trait silent carrier is ______.

Answer 9

• alpha / alpha alpha

Question 10

Alpha-thalassemia trait is ________.

Answer 10

• • / alpha alpha (cis, Asian)
• alpha / - alpha (trans, African)
  These are thalassemia minors.

Question 11

Alpha thalassemia intermedia, also called Hb H, is _________.

Answer 11

• • / - alpha

Question 12

Hydrops fetalis, thalassemia major, is _______.

Answer 12

• • / - -

Question 13

Even though anemia is typically not present in those with alpha-thalassemia trait, ______ usually is.

Answer 13

microcytosis

Question 14

If you have one normal beta gene, then you have _______.

Answer 14

beta thalassemia trait (the other can be absent, partially present, or beta E)

Question 15

Beta thalassemia intermedia results from _______.

Answer 15

one or two copies of decreased beta globin

Question 16

Total lack of beta globin is called ______.

Answer 16

Cooley’s anemia

Question 17

Those with Cooley’s anemia are at risk for iron overload because ________.

Answer 17

they have increased iron absorption through their intestines and they have to get transfusions once a month

Question 18

With Cooley’s anemia, clinicians try to maintain a hemoglobin level of ____.

Answer 18

9-10 g/dL

Question 19

Other than transfusions, those with Cooley’s are given ______.

Answer 19

bone marrow transplants and fetal hemoglobin inducers

Question 20

Fetal hemoglobin inducers include _______.

Answer 20

hydroxyurea and butyrate

Question 21

Alpha globin is controlled by chromosome ______, while all other globin chains are on chromosome ______.

Answer 21

16; 11

Question 22

HbH disease (which is caused by _____) leads to ______ MCV.

Answer 22

• • / - a; low

Question 23

Hb E is ___________.

Answer 23

a point mutation in beta globin that leads to instability of the beta globin chain, resulting in some thalassemia-like symptoms

Question 24

In electrophoresis, A2 appears in the same band as _____.

Answer 24

Hb E

Question 25

It is crucial to know if a person is iron deficient before relying on Hb electrophoresis, because _______.

Answer 25

beta-thalassemia trait raises HbA2, but iron deficiency lowers HbA2

Question 26

Alpha and beta thalassemia traits have ____ RBC, while iron deficiency anemia has _____ RBC.

Answer 26

increased; decreased

Question 27

Decreased ______ indicates iron deficiency.

Answer 27

ferritin

Question 28

_______ is the only kind of anemia with increased RDW.

Answer 28

Iron deficiency

Question 29

Formation of RBCs outside the bone marrow (such as in the ______ or _____), is called ________.

Answer 29

extramedullary hematopoiesis

Question 30

____ is given to transfusion patients to prevent iron overload.

Answer 30

Deferoxamine (IV in USA), deferiprone (oral Europe), or deferasirox (oral USA preliminarily approved)