Normochromic caused by Hemoglobinopathies

Question 1

What is a group of genetic disorders characterized by the creation of abnormal hemoglobin resulting in hemolysis?

Answer 1

Hemoglobinopathies

Question 2

What are the four causes of globin chain defects?

Answer 2

Single Amino Acid Sub
Abnormal synthesis of one Amino Acid Chain
Fusion of Hgb chains
Extension of Amino Acid Chain

Question 3

Which Hgb is associated with the amino acid Valine replacing glutamic acid at the 6th position of a beta globin chain?

Answer 3

Hemoglobin S

Question 4

What is an autosomal Co-dominant condition that is inherited on chromosome 11?

Answer 4

Sickle Cell Anemia

Question 5

What is the difference between Sickle Cell Trait and Sickle Cell disease?

Answer 5

Trait: Heterozygous (AS/AC)
Disease: Homozygous (SS/CC/SC)

Question 6

The Spleen, Liver, Kidneys, Joints, and Extremities are places where…

Answer 6

Hgb S is found to form SLC’s

Question 7

What can induce Sickling?

Answer 7

Stress
Hypoxia
Acidosis
Dehydration
Fever
Exposure to Cold

Question 8

How long do RBC’s live in an anemic state?

Answer 8

10-20 days
Chronic Hemolysis

Question 9

What do the severity of symptoms depend on in regards to Sickle Cell Anemia?

Answer 9

Four Haplotypes of Hgb S

Question 10

What is known as genetic variations possessing different sequences of nucleotides in DNA but are located on the same gene cluster?

Answer 10

Haplotypes

Question 11

What do patients with a Hgb F concentration greater than 10% tend to show?

Answer 11

Reduced severity of symptoms

Question 12

What are the four Haplotypes?

Answer 12

Asian (Asia)
Senegal (West Africa Coast)
Benin (Mediterranean)
Bantu (Central South Africa)

Question 13

Which Hgb is associated with the amino acid Lysine replacing glutamic acid at the 6th position of a beta globin chain?

Answer 13

Hemoglobin C

Question 14

What do we see on a peripheral smear of Sickle Cell Disease?

Answer 14

Polychromasia, nRBCs, TC, HJB, SCL
Normochromic/Normocytic Anemia

Question 15

What do we see in patients with Hgb C disease?

Answer 15

Massive Spleen
Normochromic/Normocytic|High MCHC
Hgb C 80%
Crystals (Bars of Gold)
Hgb F 1%-20%
Hgb A2 2%-4%

Question 16

What do we see in patients with Hgb C trait?

Answer 16

40% TC
No clinical complications

Question 17

What do we see in patients with Hgb SC disease?

Answer 17

TC, nRBCs, HJB, Polychromasia
Gloved Hand
Washington Monument

Question 18

Which Hgb is associated with the amino acid Lysine replacing glutamic acid at the 26th position of a beta globin chain?

Answer 18

Hemoglobin E

Question 19

Which Hgb is an Alpha chain variant?

Answer 19

Hgb Gphila

Question 20

Which Hgbs migrate to the same position as Hgb S at a pH of 8.6?

Answer 20

Hgb Dpunjab
Hgb Gphila

Question 21

What is Hemoglobin Electrophoresis based on?

Answer 21

The principle that Hgb migrates at different positions depending on pH
Differentiates between Sickle Cell Trait or Disease