Hereditary spherocytosis: Difference between revisions
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== | ==Background== | ||
*Hereditary Spherocytosis (HS) = hereditary hemolytic anemia due to defect in RBC cell membrane (mainly spectrin, ankyrin) | *Hereditary Spherocytosis (HS) = hereditary hemolytic anemia due to defect in RBC cell membrane (mainly spectrin, ankyrin) | ||
**75% Autosomal Dominant, 25% Autosomal Recessive | **75% Autosomal Dominant, 25% Autosomal Recessive | ||
===Pathophysiology=== | |||
==Pathophysiology== | |||
*Deficient/Nonfunctional RBC cell membrane proteins that connect the cell membrane skeleton to the lipid bilayer | *Deficient/Nonfunctional RBC cell membrane proteins that connect the cell membrane skeleton to the lipid bilayer | ||
==Clinical Features== | |||
==Clinical | |||
*Classic triad: Anemia, Jaundice, Splenomegaly | *Classic triad: Anemia, Jaundice, Splenomegaly | ||
===Mild=== | |||
*No anemia, normal retic count, little or no jaundice/splenomegaly | |||
*No RBC transfusions | |||
*Dx’d later in life | |||
===Moderate=== | |||
**Anemic, elevated retic, elevated bili, maybe splenomegaly | **Anemic, elevated retic, elevated bili, maybe splenomegaly | ||
**May require RBC transfusions | **May require RBC transfusions | ||
**Dx’d in infancy or early childhood | **Dx’d in infancy or early childhood | ||
===Severe=== | |||
*Marked hemolysis, anemia, hyperbili, splenomegaly | |||
*Require regular RBC transfusions | |||
*Dx’d in infancy | |||
==Differential Diagnosis== | |||
*[[DIC]] | |||
*[[TTP]] | |||
*[[HUS]] | |||
*[[Microangiopathic Hemolytic Anemia (MAHA)]] | |||
*[[HELLP]] | |||
*[[HIT]] | |||
*[[Hereditary Spherocytosis (HS)]] | |||
*[[Paroxysmal nocturnal hemoglobinuria]] | |||
== | ==Diagnosis== | ||
*Low Hb, elevated retic count, spherocytes on peripheral smear | *Low Hb, elevated retic count, spherocytes on peripheral smear | ||
*Elevated MCHC (RBC membrane leaky causing RBC dehydration) | *Elevated MCHC (RBC membrane leaky causing RBC dehydration) | ||
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**One study showed AGLT + EMA binding test identified all HS pts | **One study showed AGLT + EMA binding test identified all HS pts | ||
*Negative Coombs test | *Negative Coombs test | ||
==Treatment== | ==Treatment== | ||
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*Hematopoietic cell transplant (most agree risks outweigh benefits) | *Hematopoietic cell transplant (most agree risks outweigh benefits) | ||
==Complications== | |||
*Cholelithiasis secondary to intravascular hemolysis causing development of bilirubin gallstones | |||
*Pseudohyperkalemia: K+ leaks out of RBCs after blood draw | |||
==See Also== | ==See Also== | ||
[[Category:Heme/Onc]] | [[Category:Heme/Onc]] | ||
Revision as of 12:48, 29 June 2015
Background
- Hereditary Spherocytosis (HS) = hereditary hemolytic anemia due to defect in RBC cell membrane (mainly spectrin, ankyrin)
- 75% Autosomal Dominant, 25% Autosomal Recessive
Pathophysiology
- Deficient/Nonfunctional RBC cell membrane proteins that connect the cell membrane skeleton to the lipid bilayer
Clinical Features
- Classic triad: Anemia, Jaundice, Splenomegaly
Mild
- No anemia, normal retic count, little or no jaundice/splenomegaly
- No RBC transfusions
- Dx’d later in life
Moderate
- Anemic, elevated retic, elevated bili, maybe splenomegaly
- May require RBC transfusions
- Dx’d in infancy or early childhood
Severe
- Marked hemolysis, anemia, hyperbili, splenomegaly
- Require regular RBC transfusions
- Dx’d in infancy
Differential Diagnosis
- DIC
- TTP
- HUS
- Microangiopathic Hemolytic Anemia (MAHA)
- HELLP
- HIT
- Hereditary Spherocytosis (HS)
- Paroxysmal nocturnal hemoglobinuria
Diagnosis
- Low Hb, elevated retic count, spherocytes on peripheral smear
- Elevated MCHC (RBC membrane leaky causing RBC dehydration)
- Osmotic fragility test, AGLT, EMA binding test, cryohemolysis
- One study showed AGLT + EMA binding test identified all HS pts
- Negative Coombs test
Treatment
- Folic acid
- RBC transfusion
- EPO
- Splenectomy
- As late as possible, preferably >6 yo
- Post-op need encapsulated bacteria prophy: Strep Pneumo, H Influenza, Neiserria Meningitidis
- Possible higher risk of arterial/venous thrombosis in HS after splenectomy
- Hematopoietic cell transplant (most agree risks outweigh benefits)
Complications
- Cholelithiasis secondary to intravascular hemolysis causing development of bilirubin gallstones
- Pseudohyperkalemia: K+ leaks out of RBCs after blood draw