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Questions and Answers
What is the typical presentation of Hereditary Spherocytosis (HS)?
What is the typical presentation of Hereditary Spherocytosis (HS)?
- Severe anaemia, jaundice, and splenomegaly
- Recurrent infections, jaundice, and splenomegaly
- Severe pain, jaundice, and splenomegaly
- Asymptomatic to severe symptoms depending on the defective protein (correct)
What is the key characteristic that differentiates HS from other forms of haemolytic anaemia?
What is the key characteristic that differentiates HS from other forms of haemolytic anaemia?
- Splenomegaly in the patient
- Increased osmotic fragility of red blood cells (correct)
- High levels of bilirubin in the blood
- Presence of reticulocytes in the blood
Which of the following laboratory findings is NOT typically associated with Hereditary Spherocytosis?
Which of the following laboratory findings is NOT typically associated with Hereditary Spherocytosis?
- Decreased red blood cell count
- Reticulocytosis
- Indirect hyperbilirubinemia
- Increased serum iron levels (correct)
What is the primary mechanism of red blood cell destruction in Hereditary Spherocytosis?
What is the primary mechanism of red blood cell destruction in Hereditary Spherocytosis?
What is the most common type of Hereditary Spherocytosis?
What is the most common type of Hereditary Spherocytosis?
Flashcards
Hereditary spherocytosis (HS)
Hereditary spherocytosis (HS)
Common congenital haemolytic anaemia caused by gene defects affecting red blood cell membrane proteins.
Osmotic fragility
Osmotic fragility
The weakness of red blood cells in hypotonic solutions leading to premature destruction.
Triad of symptoms
Triad of symptoms
The three main indicators of HS: jaundice, haemolytic anaemia, and splenomegaly.
Indirect hyperbilirubinemia
Indirect hyperbilirubinemia
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Reticulocytosis
Reticulocytosis
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Study Notes
Hereditary Spherocytosis (HS)
- HS is a common congenital haemolytic anaemia.
- HS-1 is the most common form of HS.
- It's caused by a genetic defect in at least one of five genes that code for red blood cell membrane anchoring proteins.
- This results in spherocytes (dense red blood cells) that are osmotically fragile.
- The reduced lifespan of these spherocytes leads to their destruction by the spleen.
- Common symptoms include jaundice, haemolytic anaemia, and splenomegaly (enlarged spleen).
- The severity of symptoms varies based on the specific defective protein.
Patient Presentation
- The patient presented with recurrent jaundice starting from day 3 of life.
- Physical examination revealed splenomegaly.
- There was no anaemia noted, and no family history of HS was reported.
Laboratory Results
- Laboratory tests revealed elevated levels of indirect hyperbilirubinemia.
- There was also reticulocytosis (increased immature red blood cells) found.
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