Sickle cell anemia Flashcards
How is sickle cell disease inherited?
Autosomal recessive
What is the difference between sickle cell disease and sickle cell trait?
Disease has a single gene mutation on both chromosomes
Trait has one single gene mutation
Who should be screened for sickle cell disease carrier status?
- African Americans
- Latin Americans
- Mediterranean
How do you screen for sickle cell disease carrier status?
Hemoglobin electrophoresis for screening and diagnosis.
Hb S - 35-40%
Hb A >50%
Hb A2 - 2%
What would you expect to see on a hemoglobin electrophoresis for a patient with sickle cell disease?
Hb SS:
HbS - 55-90%
Hb A2 - 2%
Hb F - 10-20%
What are the maternal risks to pregnancy complicated with sickle cell disease?
- Sickle cell crisis
- Chronic hemolytic anemia
- Multiorgan dysfunction
- Acute chest syndrome
- Preterm labor
- Premature rupture of membranes
- Antepartum hospitalization
- Postpartum infection
- Preeclampsia
- Infection
- Thrombocytosis, leukocytosis
- Stroke
- Aplastic crisis
- PHTN
- Renal medullary damage
- Ventricular dysfunction
What is chest syndrome?
Chest syndrome is characterized by a pulmonary infiltrate with fever that leads to hypoxemia and acidosis. The infiltrates are not infectious in origin but rather are due to vasoocclusion from sickling or embolization of marrow from long bones affected by sickling
What are the fetal risks to pregnancy complicated with sickle cell disease?
- intrauterine growth restriction (IUGR)
- low birth weight
- preterm delivery
- Stillbirth
Fetal risk to mother with sickle cell trait is minimal
What is the next steps in evaluation of a sickle cell disease carrier?
- Genetic counseling
- Paternal carrier status
- Urine culture each trimester
What is the likelihood of a pain crisis in pregnancy for patient with sickle cell trait?
20-50%
What can precipitate a sickle pain crisis?
Dehydration
Elevation - high altitude
Excitation - injury, stress
Infection
What are signs and symptoms of pain crisis in sickle cell disease?
- Pain
- Anemia
- Swelling
- Signs of infection
How do you manage pregnant woman pain crisis in sickle cell disease?
Treatment of crises is largely symptomatic, with the major objectives being to end a painful crisis and to combat infection.
Hydration, oxygen therapy, and pain management are the cornerstones of managing a pain crisis.
What is the risk of not adequately treating a painful sickle crisis?
Acute chest syndrome
How is acute chest syndrome diagnosed?
- Temperature
- Decrease saturation of oxygen
- Tachypnea
- Intercostal retractions, nasal flaring, or use of accessory muscles of respiration
- Chest pain
- Cough
- Wheezing
- Rales
