Hematología Flashcards
What is the cause of sickle cell disease?
Hereditary hemoglobinopathy
What are the main variants of sickle cell disease?
HbSS and HbSβ0thal, HbSC, Hbβ+thal
What leads to the formation of hemoglobin S?
Mutations in the hemoglobin β chain
What is the most common variant of sickle cell disease?
Homozygous sickle cell anemia (HbSS)
In which populations is sickle cell disease predominantly found?
Individuals of African and Eastern Mediterranean descent
Which studies are used to confirm the diagnosis of sickle cell disease?
Hemoglobin separation studies and genetic studies
What are some acute complications of sickle cell disease?
Vasoocclusive pain crisis, stroke, acute chest syndrome, severe anemia, invasive infections
What should infants with confirmed sickle cell disease receive?
Antibiotic prophylaxis, age-appropriate immunizations, and hydroxyurea therapy
What is the purpose of transfusion therapy in sickle cell disease?
To manage vasoocclusive events and prevent stroke
What screening should occur for complications of sickle cell disease?
Annual transcranial Doppler to screen for stroke risk
What are long-term complications of sickle cell disease?
Progressive loss of organ function, cognitive decline, avascular osteonecrosis
What is the only curative treatment option for sickle cell disease?
Allogeneic bone marrow transplantation
What is sickle cell trait?
A condition in heterozygous carriers (HbSA) not considered a form of sickle cell disease
Can individuals with sickle cell trait experience acute complications?
True
Under what conditions can sickle cell trait carriers experience complications?
During high-intensity exercise or at high altitude
