Sickle cell disease: Difference between revisions
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==Background== |
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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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== Clinical Manifestations == |
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* Chronic anemia |
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===Crises=== |
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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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|SS |
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|60-90 |
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|>90 |
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|<3.5 |
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|<10 |
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|Sβ<sup>0</sup>-thalassemia |
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|70-90 |
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|>80 |
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|>3.5 |
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|<20 |
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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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|SC |
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|90-140 |
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|50 |
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|<3.5 |
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|≤1 |
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|45 |
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|} |
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[[Category:Hematology]] |
[[Category:Hematology]] |
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Latest revision as of 12:37, 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 |
