Bleeding disorders and SCD

llbgurl's version from 2015-09-30 18:07

Section 1

Question Answer
Autosomal recessive sickle cell anemia
affect 1 in 500 black infantssick cell anemia
mediterranean, caribbean, arabian peninsula, indian descentsick cell anemia
amino acid substitution causes sickling RBCs to adhere to lining of blood vessels sick cell anemia
hypoxic, acidotic or deyhdratedsick cell anemia
vaso-oclussion sickled RBCs stick to walls of vessels and causetissue infarction, necrosis and pain
newborn period with sick cell anemiaNO SYMPTOMS, have moms fetal hemoglobin start showing s/s 2 years of age
sickle hemoglobin gene inherited from BOTH parentssick cell anemia
sickle hemoglobin gene inherited from one parent and normal hemoglobin gene inherited from other; does NOT usually cause symptosmsick cell trait
one parent has sickle trait and other parent has thalassemia treat leading to a mild form of sickle cell anemiasickle beta thalassemia
stroke6-15% of sick cell anemia patients
viterous hemorrhage, retinal detachment, blindnesssick cell anemia
acute chest syndrome = pulmonary vasoocclusion15-43% of sick cell anemia
abdominal crisisinfarcation of abdominal vessels leading to abdominal pain and tenderness and FEVER
splenic sequestraioncommon cause of DEATH under 5 years, pallor, dyspnea, tachycardia, sudden and profound weakness and abdominal pain
irritbility in infants and young childrenpainful vasoocclusive crises
hand-foot syndromeswelling of hands and feet seen as early as infancy
acute chest syndromechest pain, dyspnea, respiratory distress, cough, fever
sick cell anemia mandatory on almost all states
definitive testing for sick cell anemiahemoglobin electrophoresis
prenatal diagnosis of sick cell anemiapossible through DNA analysis
hematocrit20-29% with sickled cells
Howell-Jolly bodies on peripheral smear Absence of splenic function
elevated reticulocyte count5-15% elevated
hbg electrophoresisHgbs and no HgbA
SCDtreatment functionally asplenic
scd monitoringlabs CBC, retic count monitored every few months
PCN prophylaxsis, prevnar 23, yearly flu, meningococcal vaccinestart 2 years of age
SCDno identifying trigger of pain crisis
educate parentshow to feel spleen, early recognition of s/s of illness
painful episodesNSAIDS, narcotics
folic acid supplementsSCD
careful hydration duringperiods of illness, stress and crisis
nephropathyfrom repeated infarctions
infarction of the boneleads to necrosis especially femoral head and humerus
priapism, leg ulcersSCD

Section 2

Question Answer
1 in 5000, northern european ancestryspherocytosis
anemia with deficiency or abnormality of the RBC membrane reducing the RBC surface areaspherocytosis
RBC are spherical in shape and more likely to be sequestered or prematurely deystroyed by spleenspherocytosis
jaundice in newborn, splenomegaly under 2, chronic fatigue, malaise and abdominal painspherocytosis
chronic anemia 6-10 g/dl, retic count 5-20%, peripheral smear small proportion of RBC's are smaller than normalspherocytosis
mild chronic hemolysis to chronic severe transfusion dependentspherocytosis
treatment spherocytosis blood transfusions, spelenctomy age 5-6 d/t increased risk of encapsulated bacterial infections prior to these ags
spherocytosis complicationsaplastic crisis
aplastic crisisfever, fatigue, abdominal pain, jaundice
spherocytosis with feverTREAT vigorously, no spleen = hospital for IV abx until culture comes back
gallstone formation spherocytosis chronic d/t hemolysis and have US every 5 years and prior to splenectomy

Section 3

Question Answer
hemophilia Aclassic hemophilia, factor VIII (8) deficiency, x-linked chromosome = BOYS, or spontanous mutation, affects predominantly MALES
hemophilia Bchristmas disease, x-linked chromosome or spontanous mutation, affects mostly MALES
von willebrand diseasemost common genetic bleeding disorder effects 1% of population, BOTH males and females, abscense of VON willenbrand factor = important in platlet aggregation