Hemolytic anemia and Sickle cell/thalassemia

Question 1

Which globin chains is Hgb A made by?

Answer 1

2 alpha, 2 beta

Question 2

p02 curve shifts LEFT because of _______ O2 affinity. This leads to _____.

Answer 2

p02 curve shifts left because of increased O2 affinity. This leads to erythrocytosis.

Question 3

p02 curve shifts RIGHT because of _______ O2 affinity. This leads to _____.

Answer 3

p02 curve shifts RIGHT because of decreased O2 affinity. This leads to anemia.

Question 4

Which globin chains is Hgb A2 made by?

Answer 4

2 alpha, 2 delta

Question 5

Which globin chains is Hgb F made by?

Answer 5

2 alpha, 2 gamma

Question 6

What disease has following Hgb Electrophoresis:
Hgb A    97%
Hgb A2  2%
Hgb F     1%
Hgb S.    0%
Hgb C.    0%

Answer 6

Normal Hgb or Alpha Thal Minor

Question 7

What disease has following Hgb Electrophoresis:
Hgb A    91%
Hgb A2  6%
Hgb F     3%
Hgb S.    0%
Hgb C.    0%

Answer 7

Beta Thal Minor
B/B0 or B/B+
Patients are typically asx with microcytic anemia and normal RBC count. Reduced beta globin production

Question 8

What disease has following Hgb Electrophoresis:
Hgb A    0%
Hgb A2  30%
Hgb F     70%
Hgb S.    0%
Hgb C.    0%

Answer 8

Beta Thalassemia major. No Hgb A production as no beta globin production.
B0/B0 or B+/B+

Question 9

What is the phenotype for beta thalassemia major?

Answer 9

Severe transfusion dependence for lifetime. Need chronic transfusions to support hgb of 9-10 range and iron chelation when ferritin is >400

Question 10

What clinical feature portends poor prognosis in AlloSCT in patients with beta thalassemia major?

Answer 10

Hepatic iron overload

Question 11

What makes hemoglobin constant spring different from other alpha thalassemias

Answer 11

It results from a nondeletion that results in a prolonged alpha chain. Others are caused by DNA deletions on chromosome 16.

Question 12

What globin chain combination results in Hgb H

Answer 12

bb/bb-> 4 beta globin chains. Manifested in patients with alpha 0 thal.

Question 13

Patient of asian descent with hemolytic anemia during times of stress. What is their globin chain makeup?

Answer 13

Hgb H disease –/-a

Question 14

What disease has following Hgb Electrophoresis:
Hgb A    0%
Hgb A2  6%
Hgb F     4%
Hgb S.    90%
Hgb C.    0%

Answer 14

Sickle Cell- SS

Question 15

What disease has following Hgb Electrophoresis:
Hgb A    0%
Hgb A2  3%
Hgb F     17%
Hgb S.    80%
Hgb C.    0%

Answer 15

Sickle/B0 thal

Question 16

What disease has following Hgb Electrophoresis:
Hgb A    20%
Hgb A2  3%
Hgb F     17%
Hgb S.    60%
Hgb C.    0%

Answer 16

Sickle/B+ Thal

Question 17

What disease has following Hgb Electrophoresis:
Hgb A    0%
Hgb A2  0%
Hgb F     6%
Hgb S.    50%
Hgb C.    40%

Answer 17

Hgb SC

Question 18

What disease has following Hgb Electrophoresis:
Hgb A    60%
Hgb A2  0%
Hgb F     0%
Hgb S.    40%
Hgb C.    0%

Answer 18

Sickle Cell Trait

Question 19

This complication of sickle cell disease occurs 6 months after birth and is a harbinger of poor prognosis. Strong consideration should be made for AlloSCT in these patients.

Answer 19

Dactylitis (hand foot syndrome)

Question 20

Most common hemoglobin variant in SE asia?

Combination that will lead to transfusion dependence

Answer 20

Hgb E.

HgbE/B0thal

Question 21

• What mutation leads to methemoglobinemia?

- When should methylene blue be avoided?

Answer 21

• cytochrome b5 reductase gene

- G6PD

Question 22

Defects found in hereditary elliptocytosis (2)

Answer 22

Protein 4.1 and glycophorin C

Both are problems with horizontal interaction in RBC skeleton

Question 23

Defect leading to Hereditary spherocytosis

Answer 23

Spectrin-Ankyrin-Band 3 association proteins of vertical interactions of RBC cytoskeleton

Question 24

Test to diagnosis HS

Answer 24

Positive Eosin-5-Maleimide binding test. (EMA test)

Question 25

Child with retinitis pigmentosa, mental retardation, ataxia, and acanthocytes on smear.
Diagnosis:

Answer 25

Abetalipoproteinemia

Question 26

Caucasian child presents with DAT- hemolytic anemia with normal osmotic fragility test. RBCs have notched (crenated) appearance.

Answer 26

Pyruvate Kinase deficiency

Question 27

Child presents with mental retardation, muscle spasticity, seizures and hemolytic anemia. Muscle biopsy done to evaluate spasticity shows subsarcolemmal glycogen

Answer 27

Phosphofruktokinase (PFK) deficiency