Thalassemia

Question 1

The hemoglobin structure includes two _______ chains and two ________ chains

Answer 1

alpha and beta

Question 2

Hemoglobin is ________ and there is a stronger attraction between _____ and _______

Answer 2

symmetrical/ alpha and beta

Question 3

Pre-birth, babies have _______ alpha globin levels, ________ gamma globin levels and _________ beta globin levels.

Answer 3

high, high, low

Question 4

Pre-birth, where are the main sites of erythropoiesis?

Answer 4

yolk sac to liver to spleen

Question 5

Post-birth, babies have _______ alpha globin levels, ________ gamma globin levels, and ________ beta levels.

Answer 5

high, low, high

Question 6

Post-birth, where is the site of erythropoiesis?

Answer 6

Bone marrow (mostly in the flat bones)

Question 7

_________ is at 60-90% at birth and less than 2% after 2 years of age

Answer 7

Hb F (alpha/gamma)

Question 8

________ is at 10-40% at birth and greater 90% after 2 years of age

Answer 8

Hb A (alpha/ beta)

Question 9

Thalassemia is the reduced rate of synthesis one or more to the __________ which lead to imbalanced to globin chain production, defective hemoglobin production and damage to red blood cells and their precursors

Answer 9

globin chains

Question 10

What are features of Cooley’s Anemia?

Answer 10

1. Dense skull marrow expansion 2. Body is iron-overloaded 3. Growth and endocrine failure 4. Enlarged spleen

Question 11

There are ______ copies of alpha globin in the alpha clusters and _______ copies of beta globin in the beta cluster.

Answer 11

two; one

Question 12

Deletion of the entire ____________ causes beta thalassemias, a condition in which zero beta globin synthesis occurs

Answer 12

Locus Control Region of the beta cluster

Question 13

Adults have two hemoglobin forms:

Answer 13

HbA and HbA2

Question 14

___________ has a higher affinity for O2 and found in fetal blood

Answer 14

HbF

Question 15

__________ are mutation that alter the globin polypeptide properties without affecting its synthesis. They hold too tightly or too loosely to oxygen

Answer 15

Structural Variants

Question 16

_________ are disorder of imbalanced globin levels resulting from reduced or no synthesis or one globin type.

Answer 16

Thalassemias

Question 17

Sickle Cell Anemia is most common among people of ___________ origin.

Answer 17

Africam

Question 18

In _____________, a severe anemia, most red blood cells are destroyed before they are released into circulation.

Answer 18

Thalassemia major

Question 19

_________ is caused by large deletion that remove the beta globin gene plus other genes in the beta cluster or the LCR.

Answer 19

Complex Thalassemia

Question 20

Alpha thalassemia 3 gene deletion is known as _________

Answer 20

Hemoglobin H disease