blood/bleeding disorders Flashcards
(14 cards)
Most commonly iniherited bleeding disorder
Von Willebrand disease:
factor VIII binds with von Willebrand factor (vWF), which is a specific circulatory protein that acts as a carrier protein. von Willebrand disease (also known as vascular hemophilia) is a heterogeneous group of hereditary bleeding disorders caused by a quantitative or qualitative abnormality of vWF protein. It occurs in both sexes, with an incidence of 1 in 100 individuals.
Microcytic Anemia
Microcytic anemia often results from a defect in hemoglobin or globin synthesis. Chronic inflammation, lead poisoning, and iron deficiency result in decreased iron delivery to the marrow. The presence of mild microcytic anemia in children with mild to moderate lead poisoning is usually due to concomitant iron deficiency. A child at risk for lead exposure should be screened at 9 to 12 months of age and again at 24 months. An estimated 99% of lead-poisoned children are identified through screening procedures rather than clinical recognition.
A history of prematurity and/or LBW are both risk factors for iron deficiency anemia (microcytic anemia).
Macrocytic anemia
Folate and vitamin B12 deficiency are commonly seen with macrocytic anemia.
Risk factors for significant hyperbilirubinemia
Hemolytic disease, anemia
Inborn errors of metabolism
The total bilirubin increases more than 5 mg/dL/24 hours, is more than 12.5 mg/dL before 48 hours, or the direct bilirubin exceeds 2 mg/dL
Jaundice that develops in the first 24 hours of life
Prematurity (gestational age 35-36 weeks)
Previous sibling received phototherapy
Cephalhematoma or significant bruising
Exclusive breastfeeding with significant weight loss or difficulty in feeding
Hepatobiliary disease
African or Mediterranean descent (ethnic or geographic origin associated with hemolytic anemia)
sickle cell anemia first symptom of pain
Dactylitis: unilateral or bilateral swelling and inflammation of the hands and/or feet.
Blood level of lead when public action should take place
BLL of 5 mcg/dL or more is considered high (toxic), and the CDC recommends public health action be taken at this point.
Treatment for Von Willebrand
treated depending on the type and severity of the bleeding.
-Desmopressin (DDAVP) and factor VIII-vWF concentrates.
-Local measures to control bleeding may also be part of the treatment plan. Adjunctive therapy depends on the type of von Willebrand disease, determined by the level of qualitative or quantitative factor deficiency.
iron-deficiency anemia
- most common nutritional deficiency in children
-secondary to inadequate iron supply
-SX: fatigue, irritability, delayed motor development, decrease4 attentiveness, PICA, systolic murmur - CBC: microcytic, hypochromic, low hgb, increased RDW, low retic, decreased ferritin, FEP (free erythrocyte protoporphyrin)
-routine screen at 9-12mos (at risk: 1-5)
-start supplemental iron starting at 4-5 mos (cereal, formula, drops)
-elemental iron ppx for LBW
ABO incompatibility
- mom is Blood type O, baby is A,B,AB
-sx: physiologic jaundice in first 24h, hepatosplenomegaly
-DIrect coombs (DAT) test positive, mod. low hemoglobin, increased indirect bili, antibodies in infant and maternal serum
TX: photothearpy, exchange transfusion, follow bili, gamma globulin
Rh Incompatibility
- mom Rh negative, baby Rh positive. (test father for Rh+=risk)
- becomes more severe with each pregnancy
-Sx: DAT positive, hemoglobin low, increased indirect bili,
-TX: Rhogam (Rh immune globulin)- give with invaive procedures during pregnancy, and at termination
–transfuse fetus with Rh negative blood if severe
-transfuse infant with Rh Negative blood, Phototx, gamma globulin
hyperbilirubinemia
UNCONJUGATED (indirect)- overproduction of bili or impaired conjugation, uptake or transport
- 5-7mg/dL
-peaks 3-5 days
-resolves within 10 days
CONJUGATED (direct)- pathologic, biliary obstruction, infection, drugs, metabolic d/o
- >1.5-2mg/dl
jaundice in 1st day of life
-total >12.9mg/DL (FT), >15 (PT)
- persistence >1 week. (>2weeks PT)
SX: 5mg/dL appears first on head
at least 15mg/dL if on distal extremities, hepatosplenom., edema
-CHeck DAT, retic
TX: hydration, feeding, phototx, exchange transfusion, treat underlying dx
Beta (B) Thalassemia
-increased but ineffective erythorpoiesis and shorten RBC life span
- SX: pallor, weakness, facies (frontal bossing, exposure of frontal teeth, malar eminences, depression of nasal bridge), splenomegaly, jaundice
–HGB decreased, hypochromia, microcytosis, increased retic, Hemoglobin A PRESENT!
-TX: B THal major- refer to hematologist
-chronic transfusion protocol
- chelation therapy (ferritin >2000) to remove extra iron (Deferasirox, deferoxamine, deferiprone)
-prophylactic PCN 2mos-5 yrs (increased risk of infection)
- any fever greater than 101.5: WORK UP FOR SEPSIS AND CEFTRIAXONE
splenectomy
-give all immunizations!
Alpha thalassemia-
-Can be silent carrier with no anemia
-mild anemia, hypochromic and microcytic RBC
-CBC with RBCs- slightly decrease
-Hemoglobin H- moderate anemia, fragmented hypochromic, microcytic
Sickle Cell disesase
-autosomal recessive, characterized by the hemoglobin S variant of the beta-globin gene
-Hemoglobin S due to subsstitution of valine for glutamic acid on Beta gene=>distorts into classic cresent or sickle shapes when deoxygenated–>hemolysis and vascular occlusion that causes tissue ischcemia and organ dysfunction
-african, mediterranean, indian, ME descent
SX: infection (1-3 yrs), results from reduced or absent splenic funtion. risk of septicemia/meningitis mostly 2/2 STREPTOCoCCUS pneumoniae. (Fever, malasie, anorexia, poor feedign)
