Benign hematology Flashcards
Blood group that Parvo binds to
P
Salmonella infection in SS manifestations
Osteomyelitis of the long bones
Indications for HU in SSD
> = 3 VOC per year
Recurrent ACS
Stroke history
Goal HbS for exchange
<30%
Goal HbS for chronic exchange transfusion
<30%
Preoperative simple transfusion goal in SS
Hgb > 10
Cancer risk for SS trait
Renal medullary cancer
Goal HbF for HU in SSD
20%
Hemoglobin M pathophysiology
Mutation in heme pocket and form iron-phenolate resistant to reduction in divalent state
Hemoglobin M methemoglobinemia range
15-30%
Hemoglobin M prognosis
life expectancy unchanged
Hemoglobin M clinical manifestations
Cyanosis not responding to methylene blue
Oxygen dissociation curve shift in methemoglobin
To the left - non-methemoglobin in ferrous state and have increased affinity for oxygen
Clinical manifestations of methemoglobinemia
Cyanosis with normal pO2
Culprits for acquired methemoglobinemia (4)
Bactrim
dapsone
aniline dyes
rasburicase
Congenital deficiency causing methemoglobinemia
NADH-cytochrome b5 reductase
Congenital risk factors for methemoglobinemia (2)
G6PD deficiency
Pyruvate kinase deficiency
HbCC disease manifestations (3)
Mild hemolytic anemia
splenomegaly
prone to gallstones
HbSC disease manifestations (4)
Less VOC
More retinopathy
Priapism
Ischemic necrosis of bone
How to distinguish Hb C from Hb A2
citric agar for electrophoresis
Pyruvate kinase deficiency inheritance pattern
AR
Gene mutation for pyruvate kinase deficiency
PKLR
Deficiencies with pyruvate kinase deficiency
pyruvate and ATP
Symptoms of pyruvate kinase deficiency (4)
Splenomegaly
Gallstones
Jaundice
Leg ulcers
Sickle beta+ Hb electrophoresis
HbS: moderate
HbA: low
HbF: modeate
HbA2: moderate
Sickle beta0 Hb electrophoresis
HbS: high
HbA: absent
HbF: moderate
HbSS Hb electrophoresis
HbS: very high
HbA: absent
HbA2: very low
HbF: moderate
Sickle-HbC electrophoresis
HbS: moderate
HbC: moderate
HbS: moderate
HbF: mild
Direct Coombs in drug induced AIHA
IgG-. C3+
Phosphoglycerate kinase deficiency gene
PGK1
Phosphoglycerate kinase deficiency clinical manifestations
non-spherocytic hemolytic anemia
Spleen change after RBC transfusion in splenic sequestration crisis
Spleen shrinks
Treatment of splenic sequestration crisis in SSD
Careful transfusion
Treatment of pulmonary HTN in SSD
HU
Complications of zinc over supplement
Copper deficiency and pancytopenua
ESA resistannce in ESRD patient cause
Secondary hyperparathyroidism
Manifestations of hereditary elliptocytosis
hemolysis
Most common Coombs for warm agglutinin AIHA
IgG+, C3+
Target of warm agglunin antibody
Rh epitope
MCV and MCHC in cold agglutination
Both elevated
Red cell antigen for cold agglutination disease
I
Where red cell destruction takes place in cold agglutination disease
Liver
Treatment of cold agglutinin disease
Treat underlying disease
Steroids and splenectomy not effective
Treatment of refractory idiopathic cold agglutinin disease
Rituximab
Urgent treatment of cold agglutinin disease
Plasmapharesis
Paroxysmal cold hemoglobinuria test
Donath-Landsteiner Ab
Mechanism of antibiotic associated AIHA
Hapten reaction
Mutations for hereditary spherocytosis (3)
Spectrin
Ankyrin
Band 3
CBC finding for hereditary spherocytosis
Elevated MCHC
Confirmatory test for hereditary spherocytosis
Eosin-5-maleimide (EMA) is low
Treatment of hereditary spherocytosis in Jehovah’s witness
Splenectomy
Inheritance for hereditary elliptocytosis
AD
Peripheral blood findings for lack of Kell Ab
Acanthrocytes
Coombs negative hemolytic anemia, absence of morphologic abnormalities cause
Pyruvate kinase deficiency
Inheritance of PK deficiency
X linked
Peripheral blood smear in G6PD deficiency
Heinz bodies and bite cells
Enzyme inhibited by lead poisoning
Pyramidine-5-nucleotidase
Drugs associated with interferon
Gemcitabine, bevacizumab
Tacriolimus, cyclosporine
Cocaine
Metformin vitamin deficiency
B12
Major complication of thalassemia intermedia
osteoporosis
High/normal B12 but deficiency syndrome in children
Transcobalamin II deficiency
Hereditary pyropoikilocytosis symptoms
Severe hemolytic anemia
Young age of onset
When to suspect methemoglobinemia
Cyanosis with normal pO2
Treatment of cold agglutinin secondary to mycoplasma
Azithromycin
Majeed syndrome clinical characteristics (3)
Recurrent osteomyelitis
Sweet syndrome
Dyserythropoietic anemia
Majeed syndrome mutation
LPIN2
Target of Donath-Landsteiner Ab in PCH
P antigen
Oral iron with less GI side effects
Ferric maltol
HbE/beta thalassemia clinical characteristics
South Asia
Mild anemia
Cause of INH induced anemia
δ-Aminolevulinate-synthase inhibition
HbS/hereditary persistence of fetal Hb symptoms
Asymptomatic
HbH clinical manifestations
Mild anemia
Iron overload
Hb Barts condition
Hydrop fetalis or HbH
Hb Barts oxygen affinity
Extremely high
HbH disease alpha globin genes
(–,–), (–,a)
Hb Constant Spring defect
Point mutation leading to elongation of alpha globin chain
Hb Constant Spring clinical manifestations
Severe anemia
Normocytic
Thal minor designation
Hb b/b+ or Hb b0/b
Thal intermediate designation
Hb b+/b+ or b0/b+
Deficient enzyme in congenital methemoglobinemia
Cytochrome b5 reductase
Gene responsible for alpha thal
ATRX
Abetalipoproteinemai RBC morphology
acanthrocytes
Urgent treatment for babesiosis
Exchange transfusion plus atovaquone+azithro
Clinical characteristics for HbE beta-0
Similar to beta-thal intermediate
RDW in alpha and beta thal
normal
Treatment of congential ringed sideroblasts
Vit B6 (pyridoxine)
Hereditary pyrimidine 5’-nucleotidase deficiency treatment
Splenectomy
Origin of red cell destruction in colg agglutinin disease
Liver
Hemoglobin H cause
loss of 3 alpha chains
Hb Constant Spring
HbH with 2 deletions and 1 mutation
Hb Constant Spring clinical manifestations
Severe anemia
Splenomegaly
Moderate hemopphilia levels
1-5%
Dose of FVIII for prophylaxis or treatment
50U/kg
Treatment of mild hemophilia with mild bleeding
aminocaproic acid
Level maintained for hemophilia and major surgery
Prior to surgery: 100%
After surgery: 50%
Level maintained for hemophilia prophylaxis
> 1%
Number of Bethesda units for factor to not work
5
Treatment of Hem A with inhibitor (3)
Recombinant VIIIa
Porcine VIII
Prothrombin concentrate (FEIBA)
Prolonged PT and PTT in amyloidosis cause
Factor X inhibitor
Findings of aVWD
Normal Ag
Decreased ristocetin
Decreased multimers
Level for VW for epidural
50 IU/dL
Blood type with low vW
O
Treatment of bleeding in vWD Type 2B
vWF concentrate + platelets
Treatment of Factor X def bleeding
Factor X concentrate OR
PCC
Type I VWD inheritance
AD
Type I VWD vs Type III VWD
Some VWF vs none
Heye’s syndrome bleeding diathesis
Acquired Type IIA VWD
Type IIA VWD findings
Absent large multimers
Goal FVIII level for joint bleeding
peripheral - 50%
proximal - 100%
VWD Type IC mechanism
Increased clearance of VWF
Treatment of Type IC VWD
Humate (FVIII + VWF)
Treatment of Type I VWD during pregnancy
Monitor levels (will rise during pregnancy)
VWF > 50
DDAVP soft contraindication because of uterine contractions
Continue replacement for 3 weeks
Treatment of hemophilia A bleed on emicizumab
FVIII
Glanzmann’s thrombocythemia defect
GPIIb/IIIa
INR to give Vit K in nonbleeding warfarin
10
Factor deficiency leading to elevated PT and PTT but normal thrombin time (2)
Factor V
Factor X
Use of reptilase time
Not sensitive to anticoagulants
Duration of anticoagulation for high risk superficial vein thrombosis
45 days
Clinical manifestations Factor V
Minor bleeding
Elevations in PT and PTT
Treatment of bleeding with Factor V deficiency and goal FV level
FFP
20%
5M urea clot lysis assay positive disease
Factor XIII deficiency
HELLP vs severe pre-eclampsia timing
Third trimester (HELLP) second for severe preeclampsia
Prolonged thrombin time or reptilase time meaning
low and dysfunctional fibrinogen
VW Type IIB diagnosis
Binds platelets - increased risocetin activity
Treatment of bleeding in VW Type IIB
Humate P (VW replacement)
VW Type IIN diagnosis
Nothing to do with FVIII (severe reductions because of degrading of FVIII)
Inheritance for Type I VW
AD
Inheritance for Type III VW
AR
Use of DDAVP in VW - which types
Type I and IIA with mild procedures
Treatment of FII deficiency associated with LAC
Observation, can resolve
Location of May-Thurner related clot
Left iliac
Type IIM VW diagnosis
Multimers normal present but decreased
Strong APLS Ab for thrombosis
LA
Least thrombogenic contraceptive
IUD
Inheritance of antithrombin deficiency
AD
Deficiency associated with purpura fulminans
Protein C deficiency
Indications for extended post-surgical prophylaxis (4 weeks)
abdominal or pelvic surgery for cancer
management of pregnant homozygous FVL without family or personal VTE history
observation + antepartum enoxaparin
Treatment of APLS with prior fetal loss during subsequent pregnancy
enoxaparin + ASA
Brain mets that can bleed (4)
Thyroid
RCC
Chorio
Melanoma
Betrixaban indication
Hospital VTE prophylaxis
Duration of AC for pregnancy induced VTE
6 weeks postpartum and for 3 months total duration
Indications for iron chelation in beta thal (3)
Ferritin > 1000
liver iron concentration > 3mg/g
20-25 transfusion
Juvenile hemochromatosis gene
HJV
H63D homozygous HH manifestations
biochemical but not clinical HH
Goal ferritin in HH
<100
Goal ferritin in chelation for iron overload
<1000
Test for porphyria
urine porphobilogen (PBG)
Target of Hemin
ALAS1 synthesis
Treatment to prevent neonatal hemochromatosis in pregnant woman
IVIG
Iron overload with normal transferrin sat and neurological symptom diagnosis
Aceruloplasminemia
Iron refractory iron deficiency anemia gene
TMPRSS6
Iron deposition in Kuppfer cells disease
Classical ferroportin disease
Iron deposition in Kuppfer cells disease gene
FPN
Only HH gene that is AD
FPN1
Management of porphyria cutenea tarda
phlebotomy
Only porphyria inherited as AR
δ-ALA dehydratase porphyria
Treatment of porphyria cutaneous tarda refractory to phlebotomy
Hydroxychloroquine
Treatment of acute hepatic porphyria
Givosiran
Defect in Glazmann’s thrombocythemia
integrin alpha2beta3
Defect in Bernard Soulier
GP Ib/IIa
Platelets in Bernard Soulier
Thrombocytopenia, large platelets
Findings on platelet aggregation studies for storage disease
Decreased aggregation in response to ADP, collagen, epinephrine
Hermansky Pudlack symptoms (3)
1) oculocutaneous albinism
2) bleeding diathesis
3) pulmonary fibrorsis
GP Ib/IX/V function
binds platelet to endothelium
Upshaw–Schulman deficiency
ADAMTS13
Clopidogrel hematology disease association
TTP
Quebec Platelet disorder deficiency
Urokinase plasminogen activator
Treatment of bleeding in Glanzmann’s disorder 1st and 2nd line
1) platelets
2) Recombinant FVIIa
Target of antibody in post-transfusion purpura
HPA-1a
MYH9-related disorders manifestations (3)
Thrombocytopenia
Dohle-like bodies
Sensorineal hearing loss
Glanzmann’s thrombocythemia platelet aggregation study findinbg
Aggregate to risocetin, but not to ADP, collagen, epinephrine
Treatment of fetal and neonatal alloimmune thrombocytopenia
IVIG in mother at 20 weeks
Factors in cryopreciptate (4)
fibrinogen
FVIII
FXIII
vWF
Most common virus acquired from transfusion
HBV
Management of AHTR (2)
Hydration
Alkaline urine
Treatment of neonate with alloimmune thrombocytopenia
Washed platelets from mother
Most common blood group antigens outside of ABO and Rh
Kell
Major mismatch situation
Recipient has antibodies to donor
Minor mismath situation
Donor has antibodies to recipient
Bidirectional situation
Both recipient antibodies to donor and donor antibodies to recipient
Treatment of cyclic neutrophilia in children
GCSF
Severe congenital neutropenia gene
ELANE
Chediak-Higashi morphology
Neutrophils with large lysosome inclusions
Test for CGD (2)
NBT or DHR
Treatment of CGD
Interferon gamma-1b
Physical findings in Fanconi anemia (3)
Microcephaly
Skin hyperpigmentation
Short stature
First line treatment for AA (non transplant)
Horse ATG, cyclosporine, +/- eltrombopag
Treatment of chronic parvovirus causing pure red cell aplasia
IVIG
Barth syndrome symptoms (3)
neutropenia
dilated cardiomyopathy
skeletal myopathy
WHIM syndrome gene defect
CXCR4
WHIM syndrome treatment
Plerixifor
When to treat PNH clone in AA
> 50%
Gene associated with dyskeratosis congenita (2)
TERT
TERC
Gene defect in Diamond-Blackfan
RPS19
Pancreatic exocrine malfunction with neutropenia disease
Shwachman-Diamond syndrome
RDW in AOCD
Normal
Most common three alloantibodies to RBC
Kell, C, and E
Who to give postsplenectomy ppx to
age <16 or >50
AC for pregnant woman with provoked VTE and any thrombophilia
Antepartum and postpartum AC
AC for pregnant woman with APLS
Lovenox 40 and ASA 81
Treatment of post-transfusion purpura
IVIG
AC for pregnant woman with heterozygous FVL
Observation
% febrile neutropenia where you give GCSF
20%
Mechanism of iron overload in ineffective erythropoiesis
Increased erythroferrone production by erythroblasts
Deferasirox monitoring (3)
CMP (Cr and LFTs)
Opthalmologic exam (annual)
Auditory (annual)
Most common genotype for clinical HH
C282Y homozygous
Treatment of SS priapism
Urology evaluation
Back pain in Thal Major patient cause
EMH in spine
PK levels after splenectomy
Can be falsely low
Causes of secondary porphyria cutaneous tarda (2)
HIV
Alcohol
Indications for treatment of PNH
more than mild symptoms
Duration of AC ppx after cancer surgery
28 days
Postpartum cerebral sinus vein thrombosis associated with moderate hemorrhage
AC
When to use procine rFVII
inhibitor level <20
Treatment of FVII deficiency
rFVIIa
Prolonged TT with prolonged PT and PTT
fibrinogen defect
Differentiating Glanzmans thrombothemia and Bernard Soulier
Bernard Soulier has thrombocytopenia
Platelet count in Glanzmans thrombothemia
Normal
Intraop AC in patient with hx of HITT but no PF4 Ab
Heparin
Diamond-Blackfan manifestation
Pancytopenia, family history of leukemia
Test for Diamond-Blackfan
erythrocyte adenosine deaminase concentration
Test for Fanconi anemia
Chromosome breakage analysis
Erdheim-Chester disease mutation
BRAF V600E
Type 2A VW findings
Absent large multimers
Target VW level for neuroaxial anesthesia
0.5-1.5
VW Activity:Ag ratio for Type 2
<0.7
Diagnosis of VWD levels
activity of antigen <30% or <50% with bleeding
VW Type that you cannot use desmopression
IIB
Response to risocetin Bernard Soulier vs Glanzmanns
Glansmanns aggregates
Bernard does not
