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Hereditary spherocytosis
By
Muhammad asif Zeb
Lecturer Hematology
Khyber Medical University
Peshawar
objective
 What is spherocytosis
 What is normal red cell membrane and
its function
 What is pathophysiology of HS
 Co...
Hereditary spherocytosis
A genetically determined haemolytic aneamia characterized
by spherical shaped RBC,s
Characteris...
NORMAL RED CELL DESTRUCTION
RBC completes 120 days
Of life span
Changes in cell membrane
occurs
Enzyme activity declines
E...
Red cell membrane
The red cell membrane consists of:
 Proteins 50%
 Lipids 40%
 Carbohydrates: 10%
Functions of red cell membrane
 Erythrocyte membrane that is normal in structure and
function is essential to survival of...
Structure of RBC membran
INTERACTIONS OF RBC MEMBRANE
PROTEIN AND LIPIDS
 VERTICAL INTERACTIONS
 Perpendicular to cell membrane .
 Includes inte...
HORIZONTAL INTERACTIONS
 Parallel to plane of cell membrane includes spectrin head
to head attachments and protein intera...
 EPIDEMOLOGY
o Most common inherited membran disorder
o 75% autosomal dominant fashion
o 25% Rarely autosomal recessive
DISORDER MEMBRANE
DEFECT
ABNORMAL
MEMBRANE
FUNCTION
ERYTHROCYTE
MORPHOLOGY
HEREDITARY
SPHEROCYTOSIS
PRIMARY 50%
ankirin
DE...
Spherocytes formation
Pathophysiology of HS
spherocytosis
Form of HS on the bases of Severity
Mild HS
 20 to 30 percent have of cases. These p
 No anemia,
 Little splenomegaly o...
Moderate HS
 60 to 75 percent of cases.
 Moderate anemia
 Have high reticulocyte counts,
 Elevated serum bilirubin con...
Severe HS
 5 percent
 marked hemolysis and marked anemia,
 hyperbilirubinemia, 17-70 micro mole/L
 Marked splenomegaly...
Diagnosis
 BLOOD PICTURE
 Hb = 7-14g /dl
May fall below 7 in crises
 May be normal in compensated hemolysis MCV =N or
s...
Peripheral smear
 ANISOCYTOSIS
 Spherocyte
 POIKILOCYTOSIS
 Polychromatic cells
 Target cells
 Nucleated RBC can be ...
Routine chemistry testing
 Bilirubin: Increased
 Indirect bilirubin
 Urine urobilinogen: increased
 Methaemalbumin: In...
Osmotic fragility test
Principle
 When an erythrocyte is placed in a hypotonic sodium
chloride-(NaCl) solution, a net inf...
Red cell membrane detection
Red cell membrane can be detected by SDS
-PAGE
Summary
 Genitic disorder of red cell membran
 Mainly due to ankirin deficiency
 Extravascular hemolysis
 Severity dep...
Hereditary spherocytosis
Hereditary spherocytosis
Hereditary spherocytosis
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Hereditary spherocytosis

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Hereditary spherocytosis is an inherited condition related to RBC destruction. its diagnosis is require to differentiate immune hemolytic anemia and G-6-P-D deficiency anemia

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Hereditary spherocytosis

  1. 1. Hereditary spherocytosis By Muhammad asif Zeb Lecturer Hematology Khyber Medical University Peshawar
  2. 2. objective  What is spherocytosis  What is normal red cell membrane and its function  What is pathophysiology of HS  Complication of HS  Diagnosis of HS  Differential diagnosis of HS
  3. 3. Hereditary spherocytosis A genetically determined haemolytic aneamia characterized by spherical shaped RBC,s Characteristic appearance, round cells with smaller diameter Lack of area of central pallor, decrease surface to valume ratio
  4. 4. NORMAL RED CELL DESTRUCTION RBC completes 120 days Of life span Changes in cell membrane occurs Enzyme activity declines Effete cells less deformable than normal Recognized by macrophages Phagocytosis and cell death
  5. 5. Red cell membrane The red cell membrane consists of:  Proteins 50%  Lipids 40%  Carbohydrates: 10%
  6. 6. Functions of red cell membrane  Erythrocyte membrane that is normal in structure and function is essential to survival of red cell  Maintains stability and normal discoid shape of cell  Preserve cell deformability  Retain selective permeability
  7. 7. Structure of RBC membran
  8. 8. INTERACTIONS OF RBC MEMBRANE PROTEIN AND LIPIDS  VERTICAL INTERACTIONS  Perpendicular to cell membrane .  Includes interactions between skeletal lattice on cytoplasmic side to integral proteins and lipids of membrane  It stabilizes lipid bilayer defects lead to uncoupling of lipid bilayer from underlying skeleton thus selective loss lipid layer microvesicle formed Proteins include: Ankirin, Band 3 ,Glycoporin and Protein 4.2 etc
  9. 9. HORIZONTAL INTERACTIONS  Parallel to plane of cell membrane includes spectrin head to head attachments and protein interaction at junction complexes  Disruption in these interactions lead to destabilization of membrane poikilocyte e.g. Spectrin Actin
  10. 10.  EPIDEMOLOGY o Most common inherited membran disorder o 75% autosomal dominant fashion o 25% Rarely autosomal recessive
  11. 11. DISORDER MEMBRANE DEFECT ABNORMAL MEMBRANE FUNCTION ERYTHROCYTE MORPHOLOGY HEREDITARY SPHEROCYTOSIS PRIMARY 50% ankirin DEFECIENCY SECONDARY band 3, then spectrin and other DEFECIENCY DEFECTIVE VERTICAL PROTEIN INTERACTION WITH LIPID LOSS OF LIPID BILAYER SPHEROCYTE FORMED SPHEROCYTOSIS HEREDITARY ELLIPTOCYTOSIS DEFECTIVE SPECTRIN HEAD TO HEAD INTERACTION DEFECT IN BAND 4.1, ACTIN , DEFECTIVE HORIZONTAL PROTEIN INTERACTIONS RESULT IN MEMBRANE ELLIPTOCYTOSIS SKELETAL PROTEIN ABNORMALITIES
  12. 12. Spherocytes formation
  13. 13. Pathophysiology of HS
  14. 14. spherocytosis
  15. 15. Form of HS on the bases of Severity Mild HS  20 to 30 percent have of cases. These p  No anemia,  Little splenomegaly or jaundice,.  Normal hemoglobin levels
  16. 16. Moderate HS  60 to 75 percent of cases.  Moderate anemia  Have high reticulocyte counts,  Elevated serum bilirubin concentrations.  splenomegaly mild to moderate
  17. 17. Severe HS  5 percent  marked hemolysis and marked anemia,  hyperbilirubinemia, 17-70 micro mole/L  Marked splenomegaly  Gall bladder stones  The pattern of inheritance is almost always recessive and the parents of an affected patient are usually asymptomatic.
  18. 18. Diagnosis  BLOOD PICTURE  Hb = 7-14g /dl May fall below 7 in crises  May be normal in compensated hemolysis MCV =N or slightly reduced  MCH= Normal  Mchc= Increased  Plt = normal or decreased
  19. 19. Peripheral smear  ANISOCYTOSIS  Spherocyte  POIKILOCYTOSIS  Polychromatic cells  Target cells  Nucleated RBC can be present severe cases  Plt decreased if splenomegaly  Retic Usually 5-20%  Sometimes 50-70%
  20. 20. Routine chemistry testing  Bilirubin: Increased  Indirect bilirubin  Urine urobilinogen: increased  Methaemalbumin: Increased  LDH: Increased  Haptoglobin: Decreased  Haemopexin: Decreased
  21. 21. Osmotic fragility test Principle  When an erythrocyte is placed in a hypotonic sodium chloride-(NaCl) solution, a net influx of solvent (water) into the cell-will occur and the cell will swell.  If the cell size reaches a certain point, the cell membrane will become leaky and hemoglobin will diffuse out (hemolysis).  If the NaCl solutions hypotonic enough, the cell will rupture.  The degree of hemolysis can be measured by determining the absorbance of the supernatant using a spectrophotometer.
  22. 22. Red cell membrane detection Red cell membrane can be detected by SDS -PAGE
  23. 23. Summary  Genitic disorder of red cell membran  Mainly due to ankirin deficiency  Extravascular hemolysis  Severity depend on mutation in gene  Diagnosis on osmotic fragility test and PAGE. SDS

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