Normocytic Anemia
Spleen, erythrophagocytosis
Macrophages in the _______ remove senescent RBCs and abnormal RBCs by
______________
Normal RBC near end of lifespan
What is a "senescent" red blood cell?
ssDNA
Review: What kind of virus is Parvovirus (B19)?
Autosomal dominant
What is the inheritance of Hereditary Spherocytosis?
Cytoskeleton proteins, spectrin/ankyrin/band 3.1
What is the mechanism of hereditary spherocytosis? What specific proteins are
affected?
Ankyrin
What is the most common deficiency in hereditary spherocytosis?
Hereditary spherocytosis
A 20 year old female is diagnosed with anemia. Her MCV is normal, MCHC is
increased, and peripheral blood smear is as shown. She reports a family history of
chronic anemia, jaundice, and dark black gallstones. She has splenomegaly on exam.
What is the diagnosis?
Increased splenic macrophage activity and congestion in splenic cords
Hereditary spherocytosis is an intrinsic hemolytic anemia that leads to RBC fragility.
These RBCs eventually develop a spheroid shape and are lysed in the spleen because
of:
Hereditary spherocytosis, spheroid RBCs trapped in cords and phagocytosed
A 14 year old male presents with RUQ pain. US reveals gallstones. PE shows mild
splenomegaly and jaundice. Labs show normocytic anemia with elevated reticulocyte
count. Peripheral blood smear as shown, distinct lack of central pallor. Direct
, antiglobulin/Coombs test is negative for IgG or C3. What is the diagnosis? What is the
explanation for the splenomegaly?
Decreased M:E ratio, erythroid hyperplasia, increased iron stores
A 14 year old male presents with RUQ pain. US reveals gallstones. PE shows mild
splenomegaly and jaundice. Labs show normocytic anemia with elevated reticulocyte
count. Peripheral blood smear as shown, distinct lack of central pallor. Direct
antiglobulin/Coombs test is negative for IgG or C3. What is the expected finding on
bone marrow biopsy?
Parvovirus B19
What is the cause of "transient acquired red cell aplasia"?
Increased erythropoiesis consumes folate, which isn't recycled
Why is there a risk of a megaloblastic crisis in a patient with hereditary spherocytosis?
Splenectomy, doesn't stop spherocyte production but stops hemolysis
What is the definitive treatment for hereditary spherocytosis? Why?
Used to make NADPH and reduce glutathione
What does G6PD do in the normal person?
X linked recessive
What is the inheritance of G6PD deficiency?
G6PD A-
Which form of G6PD Deficiency is more common in Africa/Southern Europe and is
characterized by a progressive decline in G6PD levels as RBCs age? (ex: Present in
new RBCs, absent in older)
G6PD Mediterranean
Which form of G6PD Deficiency is more common in the Middle East/Kurdish Jews and
is characterized by depleted G6PD levels in both old and young RBCs?
When in remission or before exposure, NOT DURING ACTIVE EPISODE OF
HEMOLYSIS
When should you test for G6PD enzyme activity in a patient you suspect may have a
hereditary deficiency?
Intravascular, Heinz bodies/bite cells
Spleen, erythrophagocytosis
Macrophages in the _______ remove senescent RBCs and abnormal RBCs by
______________
Normal RBC near end of lifespan
What is a "senescent" red blood cell?
ssDNA
Review: What kind of virus is Parvovirus (B19)?
Autosomal dominant
What is the inheritance of Hereditary Spherocytosis?
Cytoskeleton proteins, spectrin/ankyrin/band 3.1
What is the mechanism of hereditary spherocytosis? What specific proteins are
affected?
Ankyrin
What is the most common deficiency in hereditary spherocytosis?
Hereditary spherocytosis
A 20 year old female is diagnosed with anemia. Her MCV is normal, MCHC is
increased, and peripheral blood smear is as shown. She reports a family history of
chronic anemia, jaundice, and dark black gallstones. She has splenomegaly on exam.
What is the diagnosis?
Increased splenic macrophage activity and congestion in splenic cords
Hereditary spherocytosis is an intrinsic hemolytic anemia that leads to RBC fragility.
These RBCs eventually develop a spheroid shape and are lysed in the spleen because
of:
Hereditary spherocytosis, spheroid RBCs trapped in cords and phagocytosed
A 14 year old male presents with RUQ pain. US reveals gallstones. PE shows mild
splenomegaly and jaundice. Labs show normocytic anemia with elevated reticulocyte
count. Peripheral blood smear as shown, distinct lack of central pallor. Direct
, antiglobulin/Coombs test is negative for IgG or C3. What is the diagnosis? What is the
explanation for the splenomegaly?
Decreased M:E ratio, erythroid hyperplasia, increased iron stores
A 14 year old male presents with RUQ pain. US reveals gallstones. PE shows mild
splenomegaly and jaundice. Labs show normocytic anemia with elevated reticulocyte
count. Peripheral blood smear as shown, distinct lack of central pallor. Direct
antiglobulin/Coombs test is negative for IgG or C3. What is the expected finding on
bone marrow biopsy?
Parvovirus B19
What is the cause of "transient acquired red cell aplasia"?
Increased erythropoiesis consumes folate, which isn't recycled
Why is there a risk of a megaloblastic crisis in a patient with hereditary spherocytosis?
Splenectomy, doesn't stop spherocyte production but stops hemolysis
What is the definitive treatment for hereditary spherocytosis? Why?
Used to make NADPH and reduce glutathione
What does G6PD do in the normal person?
X linked recessive
What is the inheritance of G6PD deficiency?
G6PD A-
Which form of G6PD Deficiency is more common in Africa/Southern Europe and is
characterized by a progressive decline in G6PD levels as RBCs age? (ex: Present in
new RBCs, absent in older)
G6PD Mediterranean
Which form of G6PD Deficiency is more common in the Middle East/Kurdish Jews and
is characterized by depleted G6PD levels in both old and young RBCs?
When in remission or before exposure, NOT DURING ACTIVE EPISODE OF
HEMOLYSIS
When should you test for G6PD enzyme activity in a patient you suspect may have a
hereditary deficiency?
Intravascular, Heinz bodies/bite cells
