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Sunday, February 9, 2014

Hereditary Spherocytosis (HS) its causes and treatment

III – Disorders of the Red Cell Membrane
Hereditary Spherocytosis (HS) 
Definition: 
Is a relatively common autosomal dominant condition in which the red cell membrane is abnormally permeable , allowing the erythrocytes to “swell –up “ into a spherical shape .
  
The spherocytes are readily recognizable in the blood smear , have abnormal osmotic fragility (they are unable to swell any further and rupture when placed in hypotonic solutions)

Are prematurely destroyed in the spleen .
        . HS results in  a haemolytic anaemia of variable severity .
        . Associated with intermittent jaundice and splenomegaly . 
 . Exacerbation of haemolysis may occur with infection , and crises occasionally aplastic crises may develop .
      
  . Chronic haemolytic"Arial","sans-serif"; mso-ascii-font-family: Calibri; mso-ascii-theme-font: minor-latin; mso-bidi-font-family: Arial; mso-bidi-language: AR-EG; mso-bidi-theme-font: minor-bidi; mso-hansi-font-family: Calibri; mso-hansi-theme-font: minor-latin;">

jaundice leads to gall stone formation .

Treatment
Haemolysis can be prevented , and the condition effectively “ cured” by splenectomy , risks of overwhelming infection may be reduced by avoiding splenectomy in early childhood , the administration of polyvalent penumococcal vaccine and giving long-term prophylactic penicillin


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