Chapter 11- Hemolytic Anemias

Question 1

Hereditary spherocytosis

Pathologic Cells

Answer 1

RBCs, destroyed via hemolysis

Question 2

Hereditary spherocytosis

Patients

Answer 2

1:2,000 individuals from Northern European Ancestry

Question 3

Hereditary spherocytosis

Unique Features

Answer 3

Autosomal dominant
mutations in RBC membrane proteins, weak RBCs are
removed by spleen, manifests with anemia & splenomegaly, jaundice, RBCs lack central pallor

Question 4

Hereditary spherocytosis

Prognosis

Answer 4

Variable severity, most have minor anemia, possibly complicated by
parvovirus B19 infection (aplastic crisis), splenectomy may be Tx. for severely affected patients

Question 5

Sickle cell anemia

Pathologic Cells

Answer 5

RBCs, destroyed by hemolysis

Question 6

Sickle cell anemia

Patients

Answer 6

8% of African Americans are heterozygotes (trait), 1:600 are homozygotes (have anemia)

Question 7

Sickle cell anemia

Unique Features

Answer 7

Autosomal recessive betaglobin
mutation in the RBC
hemoglobin, makes RBCs
prone to thrombosis,
exacerbated by: blood is
sluggish (spleen, marrow),
dehydration, inflammation

Question 8

Sickle cell anemia

Prognosis

Answer 8

Heterozygotes are asymptomatic
and homozygotes express the
condition, 50% of homozygotes live
past their 50s, death is most
commonly from a stroke or acute
chest syndrome

Question 9

α-thalassemia

Pathologic Cells

Answer 9

RBCs, destroyed

via hemolysis

Question 10

α-thalassemia

Patients

Answer 10

Individuals from:
Mediterranean,
Africa, Southeast
Asia

Question 11

α-thalassemia

Unique Features

Answer 11

Both cause early RBC
hemolysis and damage RBC
precursors in marrow. 
α-thalassemia results from α-globin mutation and damages
RBCs due to unpaired β-globin

Question 12

α-thalassemia

Prognosis

Answer 12

lethal in utero (4/4 mutations) or
asymptomatic carrier (1/4
mutations)

Question 13

β-thalassemia (Minor/Major)

Pathologic Cells

Answer 13

RBCs, destroyed

via hemolysis

Question 14

β-thalassemia (Minor/Major)

Patients

Answer 14

Individuals from:
Mediterranean,
Africa, Southeast
Asia

Question 15

β-thalassemia (Minor/Major)

Unique Features

Answer 15

Both cause early RBC
hemolysis and damage RBC precursors in marrow. α-thalassemia results from α-globin mutation and damages
RBCs due to unpaired β-globin
(vice versa for β-thalassemia).

Question 16

β-thalassemia
(Minor vs Major)
Prognosis

Answer 16

β-thal. minor: asymptomatic or
minor anemia, normal lifespan.

β-thal. major: severe, hair-on-end skull, growth restrictions, lethal
during 20s, hemochromatosis
(heart/liver failure) secondary to
repeated blood transfusion

Question 17

Glucose-6-phosphate
dehydrogenase (G6PD)
deficiency
Pathologic Cells

Answer 17

RBCs, destroyed

via hemolysis

Question 18

Glucose-6-phosphate
dehydrogenase (G6PD)
deficiency
Patients

Answer 18

Individuals from
Mediterranean or
the Middle East,
10% of U.S. blacks

Question 19

Glucose-6-phosphate
dehydrogenase (G6PD)
deficiency
Unique Features

Answer 19

X-linked, RBCs are susceptible
to damage because
glutathione can’t be produced
without G6PD, hemolysis is
exacerbated by oxidants:
infections, aspirin, fava beans

Question 20

Glucose-6-phosphate
dehydrogenase (G6PD)
deficiency
Prognosis

Answer 20

Many patients are asymptomatic or
have very mild anemia, many go undiagnosed due to the lack of obvious features, avoidance of precipitating oxidants is
recommended.

Question 21

Paroxysmal nocturnal
hemoglobinuria (PNH)
Pathologic Cells

Answer 21

RBCs, destroyed

via hemolysis

Question 22

Paroxysmal nocturnal
hemoglobinuria (PNH)
Patients

Answer 22

Individuals from
Southeast Asia or
the Far East,
frequently diagnoses
among middle-aged
adults

Question 23

Paroxysmal nocturnal
hemoglobinuria (PNH)
Unique Features

Answer 23

X-linked, PIGA gene mutations in myeloid stem cells, RBCs are susceptible to damage from complement fixation, which is exacerbated at night a pH drops slightly

Question 24

Paroxysmal nocturnal
hemoglobinuria (PNH)
Prognosis

Answer 24

This conditions is very rare, may be managed with antibodies that
inhibit the MAC of the complement system

Question 25

``` Immunohemolytic anemias (Warm/Cold) Pathologic Cells ```

Answer 25

RBCs, destroyed | via hemolysis

Question 26

``` Immunohemolytic anemias (Warm/Cold) Patients ```

Answer 26

Individuals with leukemia/lymphoma and other or other autoimmune disorders: SLE, RA, systemic sclerosis, or inflammatory bowel disease (Crohn, U.C.)

Question 27

``` Immunohemolytic anemias (Warm vs Cold) Unique Features ```

Answer 27

Opsonization of antibodies against one’s own RBCs, commonly results is removal of RBCs in the spleen, complement activation is also involved to a lesser degree a) Warm: IgG, rarely IgA b) Cold: IgM

Question 28

``` Immunohemolytic anemias (Warm/Cold) Prognosis ```

Answer 28

Mild-moderate anemia when the condition is isolated, may be associated with reduced lifespan in patients with serious comorbidities (e.g. leukemia, SLE)

Question 29

Malaria (tertian malaria) | Pathologic Cells

Answer 29

RBCs, destroyed | via hemolysis

Question 30

Malaria (tertian malaria) | Patients

Answer 30

Anyone infected with malaria: Southeast Asia, Africa

Question 31

Malaria (tertian malaria) | Unique Features

Answer 31

Plasmodium falciparum destroys RBCs as part of its lifecycle, merozoite showers every 48 hours, blackwater fever, fatigue, vomiting, jaundice, headaches, convulsions, loss of consciousness

Question 32

Malaria (tertian malaria) | Prognosis

Answer 32

Patient with malaria have a shortened lifespan and die from cerebral malaria, liver or kidney failure