Adult Sickle Ce Flashcards
Normal adult Hemoglobin
Type A
What is sickle cell disease
Inheritance of two abnormal hemoglobin jeans at least one of which is an S
What are the different types of abnormal hemoglobin
S, C, E, thal , D
Is sickle cell disease recessive or dominant
Recessive so needs both parents to pass on abnormal genes for disease to manifest
What is polymorphism in sickle cell disease
heterozygotes have resistance against malaria
What amino acid replaces the glutamic acid at position 6 in the beta chain of the hemoglobin leading to sickle cell disease
Valine
What is the pathophysiology of sickle cell disease
Formation of abnormal hemoglobin which is insoluble
Forms Crystal when low oxygen (Sickling)
Red cell structure and function altered
Cause infarcts
Clinical features of sickle cell disease
Variable severity
steady states punctuated with crisis
chronic hemolytic anemia
end organ damage
What are the characteristics of the crisis in sickle cell disease
Sudden onset
vaso-occlusive
Types of crisis in sickle cell disease
hand and foot syndrome bone and joint crisis abdominal crisis central nervous system crisis acute chest syndrome hematology crisis Aplastic crisis Splenic sequestration Hyperhemolytic and megaloblastic
Someone causes of crisis in children with sickle cell disease
Infectio
Variable hemoglobin but typical number in sickle cell disease is
6 to 8 g/dL in adults
Call end organ damage in sickle cell disease
Retinopathy
renal failure
pulmonary hypertension
chronic leg ulcer
How do you diagnose sickle cell disease
Is history
physical examination
laboratory investigation
Prenatal a newborn test
Laboratory investigation In sickle cell disease
Full blood counts and blood film
Sickling test
HB electrophoresis
