CC Jan 2016 Sickle cell trait

echoecho's version from 2016-01-05 17:25


Question Answer
Sickle cell disease is the most common hemoglobinopathy in AA and certain other ethnic groups, true or false?true
In the most common variant, the patient is homozygous for hemoglobin _____?S
What is the mutation that takes place in sickle cell disease?mutation substituting THYMINE for ADENINE in the 6th codon of the gene for the beta chain
Name another variant of sickle cell disease?hemoglobin SC disease (heterozygous for hgb S and hgb C)
The prevalence of sickle cell anemia is 1 in ___ births in AA, and 1 in ____ births overall in the US?396; 2,647
Sickle cell trait (a less severe variant), results when there is what genotype?a heterozygous (AS) genotype
Estimates suggest that 8-10% of ____ _____ have sickle cell TRAIT as well as 0.7% of ______?AA; Latinos
*** THE USPSTF recommends _____ (for vs against) screening of all newborns for sickle cell disease?for
What methods, with extremely high sensitivity and specificity for detecting sickle hgb, are available for screening for sickle cells in newborns?1) thin-layer isoelectric focusing (IEF) or 2) high-performance liquid chromatography (HPLC)
Why must blood specimens be drawn prior to any blood transfusions?because of the potential for false-negative result as a result of the transfusion
Why do extremely premature infants who have sickle cell trait have a false-positive test for sickle cell anemia?because hgb A may be undetectable, since it is not produced until closer to term
Patients with sickle cell _____ are considered to have a benign carrier condition and do not have the same s/s as those with sickle cell disease?trait
The mortality rate of patients with sickle cell trait is the same as in the general population, however, there are some clinical complications that may occur conditions in the population. List these conditions?1) renal 2) thrombosis 3) pregnancy 4) exercise/exe
List the complications of sickle cell trait that can occur in the renal system?1) Hematuria (intermittent episodes; secondary to papillary necrosis) 2) Hypothenuria / isothenuria (impaired urinary concentrating ability) 3) Renal medullary carcinoma (almost exclusively in young AA persons with male predominance and age of presentation < 20 y.o.) 4) Early-onset end-stage renal disease in those with autosomal dominant polycystic kidney disease 5) UTI (increased rate in women)
List the complications of sickle cell trait that can occur in thrombosis?1) splenic infarction at high altitudes with exercise or with associated hypoxemia 2) venous thromboembolism
List the complications of sickle cell trait that can occur in pregnancy?1) possible association with fetal loss, neonatal death and pre-eclampsia 2) UTI (higher rates of asymptomatic bacteriuria; rates of pyelonephritis may be increased)
List the complications of sickle cell trait that can occur in exercise/exertion?1) fatal exertional heat stroke (often with rhabdomyolysis) 2) sudden idiopathic death
List 5 recommendations that apply to athletes with sickle cell trait?1) training should be slow and include adequate rest periods 2) ambient temperature and altitude should be the basis for adjustment of training routines 3) adequate hydration is essential 4) asthma, if present, must be well controlled 5) cooling and administration of supplemental oxygen are necessary if distress occurs
Why has the National College Athletic Association (NCAA) adopted a policy (2010) mandating sickle cell testing in all incoming collegiate athletes as part of the preparticipation examination?because of concerns regarding sudden death in competitive athletes and the relationship between sickle cell trait and fatal exertional heat stroke?
Regarding the above testing, what must students provide or may decline the test and sign a written release?a proof of previous testing
Originally the above was applied to division 1 schools but has been expanded to include what schools as well?division II and division III schools
The identification of sickle cell trait does not preclude the athlete from sports participation but would prompt what?further education regarding measures to prevent exercise and heat-related illnesses
Why has the American Society of hematology (ASH) and the American Academy of Pediatrics (AAP) have voiced opposition to this policy based on what factors?mandatory nature of the program
What has the US military branches focused on?a precautionary approach to prevent exercise-induced heat stroke in all individuals and have not adopted a sickle cell screening program
*** SUMMARY = While the mortality rate of individuals with sickle cell trait is the same as unaffected individuals, there are some clinical ______ that could arise?complications
*** SUMMARY = The risk of heat stroke is increased in individuals with sickle cell trait, true or false?true