Case 1.2

Question 1

An autosomal recessive disorder of HgbSS is?

Answer 1

Sickle Cell Disease

Question 2

Sickle cell trait is classified as?

Answer 2

Heterozygous HgbS (AS)

Question 3

What do signs of sickle cell disease begin as early as 6 months of age?

Answer 3

HgbSS starts to replace fetal hemoglobin instead of adult hemoglobin.

Question 4

What is the most common first sign of sickle cell disease between the ages of 6-9 months?

Answer 4

Dactylitis (swelling of the digits)

Question 5

What pathogen causes osteomyelitis in sickle cell patients?

Answer 5

Salmonella.

Question 6

Most sickle cell patients have functional asplenia, this puts them at an increased risk of infection from what type of organisms?

Answer 6

Encapsulated organisms.

Question 7

Sickle cell aplastic crisis is most associated with?

Answer 7

Parvovirus B19 infection.

Question 8

Painful occlusive crises in sickle cell patients are triggered by?

Answer 8

Cold weather, hypoxia, infection, dehydration, EtOH, and pregnancy.

Question 9

A common finding in male patients with sickle cell during an occlusive crisis is?

Answer 9

Priapism

Question 10

Expected hemoglobin and hematocrit levels for a patient with sickle cell disease are?

Answer 10

Both will be low

Hemoglobin between 5-9g/dL
Hematocrit between 17-29%

Question 11

Peripheral smear for sickle cell patients will show?

Answer 11

Sickled Erythrocytes
Target Cells
Howell-Jolly Bodies (aspenia)

Question 12

Diagnosis of sickle cell disease is done with?

Answer 12

Hemoglobin electrophoresis

Question 13

Which drug should be avoided for sickle cell patients?

Answer 13

Meperidine (can cause seizures)

Question 14

Pain control for sickle cell patients includes what three things?

Answer 14

1. Oxygen therapy
2. IV hydration
3. Narcotics for adequate pain control

Question 15

What medications would you expect a sickle cell patient to be on and why?

Answer 15

Hydroxyurea - reduces frequency of pain crises, increases RBC water levels, decreases sickling deformity, and increases HgbF population.

Folic Acid - to help maintain RBC production and DNA synthesis.

Prophylactic Penicillin - reduce chance of infection due to compromised spleen.

Question 16

Children with sickle cell disease should be vaccinated with what vaccines?

Answer 16

SHiN

• S. pneumococcus
• Haemophilus Influenzae type B
• N. Meningococcus

Question 17

Which thalassemia is more common among the Southeast Asia population?

Answer 17

alpha-Thalassemia

Question 18

Which thalassemia is more common among the Mediterranean population?

Answer 18

beta-Thalassemia

Question 19

Which alpha and which beta Thalassemia present most similarly?

Answer 19

alpha-Thalassemia Intermedia (HgbH Disease) and beta-Thalassemia Major.

Question 20

beta-Thalassemia is diagnosed with?

Answer 20

Hemoglobin electrophoresis

Question 21

Describe Hereditary Spherocytosis.

Answer 21

An autosomal dominant intrinsic hemolytic anemia.

Question 22

What are the common clinical manifestations of hereditary spherocytosis?

Answer 22

• Anemia
• Jaundice
• Splenomegaly
• Pigmented black gallstones

Question 23

Blood smear will show spherocytes, describe what a spherocyte is.

Answer 23

Round RBCs lacking central pallor

Question 24

Hereditary Spherocytosis is diagnosed using what two tests?

Answer 24

• Osmotic Fragility Tests (positive)

- Coombs Tests (negative)

Question 25

In severe spherocytosis what is the treatment of choice?

Answer 25

Splenectomy - stops splenic RBC destruction

Question 26

A condition where oxidative stress oxidizes Hgb into methemoglobin. This increases RBC membrane damage/fragility and denatures the hemoglobin.

The denatured Hgb precipitates as Heinz bodies and are targeted for destruction by splenic macrophages leading to episodic hemolytic anemia.

What condition is this?

Answer 26

G6PD Deficiency

Question 27

G6PD Patients will under hemolytic crisis during times of oxidative stress, what can cause this?

Answer 27

• Infection (most common cause)
• Fava Beans
• Medications - sulfa drugs and antimalarials

Question 28

What physical exam findings would you suspect in a G6PD patient?

Answer 28

Jaundice and splenomegaly

Question 29

Heinz bodies and schistocytes are indicative of what disorder?

Answer 29

G6PD Deficiency