Hematology Flashcards
G6PD medications to avoid
Medications: sulfonamides, cipro, moxifloxacin, norfloxacin, ofloxacin, dapsone, septra, nalidixic acid, chloramphenicol, nitrofurantoin, primaquine, pamaquine, chloroquine, quinacrine, B-naphthol, niridazole, acetanilide, vitamin K analogs, methylene blue, toluide blue, probenecid, dimercaprol, ASA, rasburicase, phenazopyridine, benzene, naphthalene, diabetic acidosis, hepatitis, sepsis
Inheritance G6PD
x-linked
Pathophys G6PD
G6PD catalyzes conversion of glucose 6 phosphate to 6-phosphogluconic acid which produces NADPH which maintains GSH which provides protection against oxidant threat from certain drug and infections that would otherwise cause precipitation of hemoglobin (Heinz bodies) or damage RBC membrane
ethnic groups for G6PD
- 13% of males of African descent have G6PD
Italians, Greeks, Mediterranean, middle eastern, African and Asian ethnic groups also have a high incidence ranging from 5-40%
heniz bodies
G6PD
Ethnicity fo hereditary aphserocytosis
Northern European
Proteins involved in hereditary spherocytosis
Abnormalities of ankyrin or spectrin are the most common molecular defects
Inheritance spherocytosis
AD
Labs in HS
MCV is normal or een slightly increased, increased MCHC, low RDW
Mgmt Hereditary spherocytosis
- Should have vaccinations, spleen size monitored, screening for gallbladder disease at age 4 and repeated every 3-5 years
- Folic acid supp if moderate or severe HS
Splenectomy is curative
- Folic acid supp if moderate or severe HS
Pyruvate kinase deficiency inhertiance
AR
Hemophilia inhetiance
x-linked
Is PT abnormal inhemophilia
No
Earliest joint involved in hemophilia
ankle
What lab value is abnormla in hemophilia
PTT, usually 2-3 times uLN
Severe hemophilia how much factor
<1%
Fanconi anemia ethnicity
Higher in Ashkenazi jews and Afrikaners
Rare, multisystem hereditary disorder results in the development of bone marrow failure in those affected and predisposition to malignancy including myelodysplasia and AML, epithelial cancers
Fanconi anemia
Triad for fanconi anemia
TRIAD of bone marrow failure, congenital anomalies and elevated chromosome fragility
Congen abnormalities in fanconia enmia
Common congenital anomalies are absent radii, hypoplastic thumbs, supernumerary, bifid or absent, anomalies of the feet, congenital hip dislocation and leg abnormalities can also be seen
Cancers in Fanconi
- squamous cell carcinomas of head and neck, esophagus, vulva, anus or cervix
Screening fanconi
- Should get ultrasound of abdomen and echo to rule out other abnormalities when diagnosed
- CBC every 3mo and bone marrow every year
- Annual TSH for hypothyroidism, glucose checks
Solid tumors annually with physical exam and inspection of skin, oral cavity and other organs
Bloom Syndrome ethnicity
ashkenzi jews
bloom inheritance
AR
bloom clinical fts
- Sensitivity to UV radiation leading to chromosomal breaks
- May have café au lait spots
- IGUR, short stature
- Intellect is normal to average
- Immunodeficiency
- GI malabsorption, GERD, hypogonadism is common
- Increased risk for solid tumors (esp of skin) and lymph malignancies
Schwachmann diamond inhertiance
AR
Schwachmann diamond CBC findings
Most common to have neutropenia, then anemia, only 21% have pancytopenia, 98% have exocrine pancreatic insufficiency
Schwachmann diamond clinicla ft
Exocrine pancreatic insufficiency and metaphyseal dysplasia
- Shor stature is common, usually normal growth velocity though
- Metaphyseal dysplasia, osteopenia, delayed appearance of secondary ossification centers, short or flared ribs and thoracic dystrophy
Some patients have hepatomegaly and elevations in liver enzymes
- Most patients have dental abnormalities
Many have neurocognitive problems and poor social skills
Risk in schwacmann diamond
25% develop leukemia by age 18
is neurodevelopment impairment reversible with iron supp
No
Most frequent event preceding ACS
VOC needing opiods for pain
Platelet lifespan
7-10 days
Neutrophil lifespan
< 24h
Causes of normocytic anemia
TEC, anemia of choronic disease, medications, infections, renal failure, bleeding, hemolysis, de
Macrocytic anemia causes
Vitamin B12, folate, liver disease, myelodysplastic syndrome, bone marrwo dailure syndromes, down syndrome
Signs/ Symptoms of IDA
pica, koilpnychia, breath holding spells
Red cell indices in IDA
RDW elevated, RBC is low or noaml, MCV very low
Peripheral smear in IDA
hypochromic microcytic pencil cells
Iron studies in IDA
elevated TIBC, decreased ferritin, decreased transferrin saturation
When to repeat bw after starting treatment for IDA
check CBC, retic, iron at 1month and 3 months
how much and how long to supplement LBW infants 2-2.5kg iron
1-2mg/kg/day for 0-6 months
How much and how long to supplement LBW infants < 2 kg
2-3mg/kg/day for 0-12mo
Is iron supp required for LBW infants fed preterm formulas
no, these formulas are higher in iron
Pathophys of anemia of chronic disease
involves hepcidin elevated levels that decrease GI absorption of iron and limit the expor of iron from amcrophages into red blood cells
TIBC in anemia of chronic disease
low/normal
HbA is made of
2 alpha, 2 beta chains
emoblogin A2 is made of
2 alpha, 2 delta chains
emoglobin F is made of
2 alpha, 2 gamma chains
Beta thal trait labs
Hb is typically normal or low normal, RBC elevated, RDW is low
Hb electropheresis of Heta thal trait
Hb A2 will be eelbated > 3.5%
Mentzer index formula
MCV/RBC
Mentzer > 13
IDA
Mentzer 13>
thallassemia
When does beta thal present
after 6 months (no longer making HbF)
alpha thal trait
microcytosis, asymptomatic, normal hemoglobin, can be cis/trans for genetics implications
HbH disease
decreased hemoglobin, typically not transfusion dependent, dont typically require chelation, present at birth, three alpha gene deletion
Hb Bart
Four alpha gene deletion, cannot make hemoglobin A, A2 or F, severe fetal anemia
How to diagnose alpha thal trait
diagnosed by genetic testing
Should you have sickle cells on smear in sickle cell trait
no
Complications of SCD
clinical stroke, silenet stroke, neurocog changes, proliferative retinopathy, asthma, OSA, acute chest, pulm hypertension, cncentrating defects, papillary necrosis, enuresis, liver of splenic sequestration, gallstones, priapism, VOC, aplasticc crisis, functionally asplenic
ACS diagnosis
fever or resp symptoms and new infiltrated on CXR
What does ACS put patients at riskf ro
stroke
What is clinical stroke in SCD an indication for
acute exchange tranfusion
Sickle cell surveillance
follow-up q6mo, monthyl CBC on hyroxyurea, pen prophylaxis age 2mo until 5 years, folic acid, all extra vaccines, BP at each visit, TCS- annually startni at age 2, at age 10 retinopathy screening, annual u/a and creatinine
How often to do PFT and echo in SCD
Newest guidelines only if symptomatic
Reasons for splenectomy in children
sickle cell disease after one episode of sevre splenic sequestration, certain inhertied hemolytic anemias with severe symptoms > 5 years old, transufion dependent thallassemia, chronic ITP refractory to all treatment
Complications post splenectomy
infection with encapsulated orgnaisms and certain parasites, thrombosis
Diamond Blackfan inheritance
AD
When does DBA present
First year of life < 6 mo usually
What type of anemia in DBA
macrocytic
Kids with DBA are at increased risk of
MDS/AML
ITP treatment with doses
prednisone 4mg/kg/day for four days or pred 2mg/kg/day for 1-2 weeks with tapering dose
IVIG 1g/kg
How many with ITP that repond to treatment will relapse
1/3
When is ITP considered chronic
> 12 mo
%neonates with NAIT with ICH
10-25%
When to do cranial ultrasound in NAIT
plt , 50000
Mgmt NAIT
HPA1a-ve platelets ASPA, rnadom donor platelets if infant is bleeding and no HPA1a-ve in region
iwskott Aldrich syndrome triad
small platelets, thrombocytopneia, eczema, immunodeficiency
Fanconi anemia buzzwords
anmeia,pancytopenia, absent or abnormal thumbs, short and small features, cafe au lait macules, VACTERL anomalies
Dyskeratosis congenita buzz words
dystrophic nails, lacy reticular rash, white tongue coating (leukoplakia), pancytopenia
Schwachman diamond syndrome buzz words
neutropenia, expocrine pacratic insuffiicnecy, bony abnomrlaities
CAMT
thrmbocytopenia, bo birth defects
Kassabach Meritt labs
thrombocytopenia, low fibronogen, elevated didimer, PTT may be minimally prolonged, usually not a MAHA
isoalted INR prolongation
factor 7
isolated pTT prolongation
factor 8, 9, 11, 12, lupus anticoagulant
PTT and INR normal, bleeding
factor 13 deficiency or not the clotting casacade (vWF, plt nnumber or function problem)
test for lupus anticoagulant
dilute russel viper venom time
vitamin K dependent factors
Vitamin K deficiency will cause?
elevated INR and PTT
What becomes abnomrla first in vit k deficiency
INR because of short half life of F7
vwf is a carrier for
f8
Normal vwf antigen/activity level
> .5
Type 1 vWF disease
AD, most commonl, botn antigen/activity will be proprtionally low, ratio >.7
Type 2 vWF disease
AD, ratio < .7
type 3 vwf disease
levels undetectable, AR, factor 8 severely low range < 1%
Treatment vwf type 3
vwf/VIII concentrate
labs in hemophilia
INR normal, PTT prolonged often > 60, fibrinogen normaml, vWF normal, factor 8 levels low < 40%
mild/mod/severe hemophilia factor levels
5-40, 1-5, < 1%
How does Factor 13 defieicny present
umbilical stump bleeding or ICH
Genetic disorders that increase risk for thrombosis
factor V leiden, prothrombin, antithrombin deficiency, protein C and S deficiency
Homocystinura, proteus
How does heparin work
binding to antithrombin 3 to inhibit factor 10
infections from transfusions
Hep B» Hep C» HIV
Management for VOE in SCD
analgesi within 30-60 minutes
avoid cold packs
regular tylenol and advil
acoid overhydration
incentive spirometry
ACS management
maintain O2 sat gretaer than 95
acoid over hydration
incentive spirometry
broad spectrum anitbiotics
cross match for possible transfusion
When are SCD patients highest risk for splenic sequenstration
before age 5
what are indications for simple RBC transfusion in SCD
splenic sequestration
aplasitc crisis
indication for exchange transfusion in SCD
stroke
age for TCD screening SCD patients
2-16 to identify high risk pateints
Most common human genetic disease
SCD
what do SCD kids need more vaccines against
pneumococcal, meningococcal and addition dose of Hib, Hep A nand B and annual flu vaccine
when to give prophylactic antibitooics SCD patients
age 2mo-5y, can be extended if splenectomy or hsitory of invasive bacterial infections
alternative of SCD prophylaxis if pen allergy
cotrimoxazole or erythromycin
when should hydroxyurea be offerred
all SCD kids over 9mo
oxygen sat target SCD patients
95 greater
ACS definition
new pulmonary infiltrate in the presence of fever and respiratory signs or symptoms
who is more likely to have splenic sequestration
HbSC and HbSB
most common cause pediatric stroke
SCD
when should use screen TCD in SCD patients
2-16, no evidence after age 16
Low risk criteria for SCD patient with fever
These patients can be managed as outpaitnet
fever < 40
> 6 months
WBC 5-20, plt > 100, HB not mroe than 20 below baseline
no resp distress or CSR abnormalitiy
no clinical findings of meningitis
no higostry of sepsis or meningitits
no signfiicant pain or dehydration
initial visit
ability to follow up closely
