Sickle cell disease: Difference between revisions

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== Definition ==
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==Background==
   
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* Genetic mutation of the hemoglobin beta? chain
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*Genetic mutation of the hemoglobin beta chain, most commonly an E6V substitution, causing the formation of hemoglobin S
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*Most common in people with African ancestry, though also occurs in Hispanic, southern European, Middle Eastern, and Indian people
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*Life expectancy is 20-30 years shorter
   
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== Crises ==
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== Clinical Manifestations ==
   
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* Chronic anemia
⚫
* Four major sickle crises:
  
⚫
** Vasoocclusive pain crisis
  
⚫
** Hemolytic crisis
  
⚫
** Aplastic crisis (often associated with parvovirus)
  
⚫
** Splenic sequestration crisis
  
   
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===Crises===
  +
  ⚫
*Four major sickle crises:
  ⚫
**Vasoocclusive pain crisis
  ⚫
**Hemolytic crisis
  ⚫
**Aplastic crisis (often associated with parvovirus)
  ⚫
**Splenic sequestration crisis
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  +
== Diagnosis ==
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* Hemoglobin quantification can help to identify the type of sickle cell disease
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** HbS is sickle hemoglobin
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** HbA is normal adult hemoglobin and HbA<sub>2</sub> is the minor variant of adult hemoglobin
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** HbF is fetal hemoglobin
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** HbC is a hemoglobin variant that causes sickle cell disease when paired with HbS
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  +
{| class="wikitable"
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!Genotype
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!Hb (g/L)
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!HbS (%)
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!HbA (%)
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!HbA<sub>2</sub> (%)
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!HbF (%)
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!HbC (%)
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|-
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|AS (trait)
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|normal
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|≤40
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|>60
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|<3.5
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|≤1
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|
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|-
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|SS
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|60-90
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|>90
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|
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|<3.5
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|<10
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|
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|-
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|Sβ<sup>0</sup>-thalassemia
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|70-90
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|>80
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|
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|>3.5
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|<20
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|
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|-
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|Sβ<sup>+</sup>-thalassemia
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|90-120
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|>60
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|10-30
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|>3.5
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|<20
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|
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|-
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|SC
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|90-140
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|50
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|
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|<3.5
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|≤1
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|45
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|}
 
[[Category:Hematology]]
  
[[Category:Hematology]]

Latest revision as of 08:37, 16 August 2020

Background

  • Genetic mutation of the hemoglobin beta chain, most commonly an E6V substitution, causing the formation of hemoglobin S
  • Most common in people with African ancestry, though also occurs in Hispanic, southern European, Middle Eastern, and Indian people
  • Life expectancy is 20-30 years shorter

Clinical Manifestations

  • Chronic anemia

Crises

  • Four major sickle crises:
    • Vasoocclusive pain crisis
    • Hemolytic crisis
    • Aplastic crisis (often associated with parvovirus)
    • Splenic sequestration crisis

Diagnosis

  • Hemoglobin quantification can help to identify the type of sickle cell disease
    • HbS is sickle hemoglobin
    • HbA is normal adult hemoglobin and HbA2 is the minor variant of adult hemoglobin
    • HbF is fetal hemoglobin
    • HbC is a hemoglobin variant that causes sickle cell disease when paired with HbS
Genotype Hb (g/L) HbS (%) HbA (%) HbA2 (%) HbF (%) HbC (%)
AS (trait) normal ≤40 >60 <3.5 ≤1
SS 60-90 >90 <3.5 <10
Sβ0-thalassemia 70-90 >80 >3.5 <20
Sβ+-thalassemia 90-120 >60 10-30 >3.5 <20
SC 90-140 50 <3.5 ≤1 45
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