Heme Diagnosis Flashcards
immune thrombocytoenic purpura
CBC and smear- normal
Bone marrow aspiration - megakaryocytes
heparin induced thrombocytopenia
Thrombocytopenia, thrombosis, and timing of platelet drop.
HIT antibody testing.
disseminated intravascular coagulation (DIC)
Increased thrombin formation –> decreased fibrinogen.
Bleeding –> increased pt, ptt, inr; thrombocytopenia.
Increased fibrinolysis –> increased d-dimer.
Peripheral smear –> fragment rbcs, schistocytes.
hemophilia a and b
PTT prolonged.
Normal PT.
Platelets normal.
von willebrand disease
aPTT (to check factor VIII activity) - usually prolonged
vWF antigen test - decreased vWF antigen or activity
vWF activity (Ristocetin cofactor assay) - in VWD, no platelet aggregation will occur
Factor VIII activity - may be decreased
factor v leiden mutation
activated protein c resistance assay and if + confirm with dna testing.
Nml pt and ptt.
protein c or s deficiency
functional assay of protein c and s
plasma protein and c and s antigen levels
hemolytic anemias
peripheral smear: spherocytes, schistocytes, increased reticulocytes
sickle cell trait
electrophoresis: Presence of hemogloblin A and Hemoglobin S
blood counts and peripheral smear: normal
sickle cell disease
Counts -> decreased hemoglobin and/or hematocrit when in crisis.
Peripheral smear -> sickled cells, target cells, Howell-Jolly bodies (indicates functional asplenia)
Electrophoresis -> HbS present, little to no HbA, increased HbF
DNA analysis is the definitive test for diagnosis
alpha thalassemia- aka hemoglobin h disease
RBC count = increased
RBC shape = microcytic
RBC color = hypochromic
MCHC = low
RBC shape = Heinz bodies, schistocytes, target cells, tear drop cells
Reticulocytes = increased
Electrophoresis = presence of beta chain tetramer (HbH)
Iron = normal or increased serum iron due to iron overload
beta thalassemia major (Cooley’s Anemia)
Skull x-rays
Frontal bossing
“Hair on end” appearance of the skull
Blood
RBC count = normal or increased
RBC shape = microcytic
RBC color = hypochromic
MCHC = low
RBC shape = target cells, tear drop cells
Reticulocytes = decreased
Electrophoresis = Increased HgbF and HgbA2, little to NO HgbA
Iron = normal or increased serum iron due to iron overload
G6PD deficiency
Normocytic hemolytic anemia during crises.
Peripheral smear = during episodes, schistocytes (or bite cells), Heinz bodies is hallmark
Increased reticulocytes, increased bilirubin, decreased haptoglobin.
Enzyme assay for G6PD
DNA testing
Hereditary spherocytosis (HS)
Blood counts = microcytic, hyperchromic (increased MCHC)
Smear = spherocytes, possible schistocytes, increased reticulocytes
EMA Binding = preferred test (most accurate)-Flow cytometric analysis of eosin-5’-maleimide-labeled intact red blood cells & acidified glycerol lysis test
Osmotic fragility test - RBCs placed in a relatively hypotonic solution rupture easily due to the increased permeability of the RBC membrane
Negative Coombs testing
autoimmune hemolytic anemia
Decreased Hgb Increased reticulocytes Increased MCHC Peripheral smear = polychromasia, microspherocytes POSITIVE DIRECT COOMB test
thrombotic thrombocytopenia purpura (TTP)
Thrombocytopenia with normal coagulation studies
Peripheral smear = hemolysis -> schistocytes, bite or fragmented cells, reticulocytes
Increased LDH & bilirubin
Decreased haptoglobin (protein that the body uses to clear free hemoglobin from circulation)
Decreased ADAMTS13 levels
Coombs negative
Hemolytic uremic syndrome (HUS)
Labs the same as in TTP
Thrombocytopenia with normal coagulation studies
Peripheral smear = hemolysis -> schistocytes, bite or fragmented cells, reticulocytes
Increased LDH & bilirubin
Decreased haptoglobin
Increased BUN & creatinine
Coombs negative
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria Increased reticulocytes Increased bilirubin Flow cytometry to look for CD55-CD59-deficient RBCs Coombs negative
iron deficiency anemia physical exam
Koilonychia (nail spooning) Angular cheilitis Tachycardia Glossitis Pallor
iron deficiency anemia
Counts = microcytic (low MCV), hypochromic (low heme) Smear = decreased reticulocytes
Iron Studies: Ferritin = decreased (pathognomonic) TIBC = increased Transferrin saturation = < 20-15% Serum Iron = decreased
lead poisoning
Serum lead levels: > 10 mcg/dL (venous sampling more accurate than finger stick)
Peripheral smear: microcytic, hypochromic anemia with basophilic stippling
Bone marrow: ringed sideroblasts
Iron Studies:
Serum iron: normal or increased
TIBC: decreased
anemia of chronic disease
Counts = Hgb around 9-10 mg/dL; RDW = normal to increased Smear = normocytic, normochromic, decreased reticulocytes -> will eventually become microcytic
Iron Studies: Ferritin normal to increased TIBC decreased Serum iron decreased Hepcidin increased
aplastic anemia
CBC = at least two cytopenias
Smear = few or absent reticulocytes
Bone marrow biopsy = most accurate test -> hypocellular, fatty bone marrow
b12 deficiency
Counts = MCV increased (macrocytic)
Smear =
Megaloblastic anemia = hypersegmented neutrophils, macro-ovalocytes, mild leukopenia and/or thrombocytopenia
Reticulocytes decreased
Serum B12 decreased
Homocysteine increased
LDH increased
Methylmalonic acid increased (differentiates it from folate deficiency)
folate deficiency
Counts = MCV increased (macrocytic) Smear = megaloblastic anemia Reticulocytes = decreased Serum folate = decreased Homocysteine = increased Methylmalonic acid = normal (B12 deficiency -> increased)
hereditary hemochromatosis
Iron studies:
Serum iron, ferritin & transferrin saturation = increased
TIBC normal or decreased
Genetic testing for HFE gene
Liver biopsy = most accurate test -> increased hemosiderin
polycythemia vera (primary erythrocytosis) PE
Hepatosplenomegaly
Facial plethora (flushed face)
Engorged retinal veins
polycythemia vera (primary erythrocytosis)
All three major indicators OR two major and 1 minor:
Major
Increased RBC mass (increased Hgb & Hct [54% men; 51% women]).
Bone marrow biopsy with hypercellularity (extra erythroid, granulocytic & megakaryocyte cells).
JAK2 mutation.
Minor
Decreased serum erythropoietin levels.
Increased leukocyte alkaline phosphatase.
Increased granulocytic WBCs, platelets or B12.
Iron deficiency.
myelodysplastic syndrome
CBC with peripheral smear = decrease in one or more myeloid cell lines (platelets, neutrophils or RBCs); hypo-segmented neutrophils, normocytic or macrocytic anemia
Bone marrow biopsy =
Normal or hypocellular (20% associated with hypocellularity)
Dysplastic bone marrow is the HALLMARK - increased myeloblasts but < 20%, ringed sideroblasts, pseudo Pelger-Huet cells (hypo-segmented and hypo-granulated neutrophils)
acute myeloid leukemia (aml)
GOLD STANDARD = bone marrow biopsy -> AUER rods and >20% myeloblasts
BEST INITIAL TEST = CBC with peripheral smear -> normocytic, normochromic anemia with normal or decreased reticulocyte count, thrombocytopenia and possible circulating myeloblasts.
Immunophenotyping/FISH analysis = most accurate test -> myeloperoxidase positive
chronic myelogenous leukemia
CBC with peripheral smear = leukocytosis with granulocytic cells (neutrophilia, basophilia, eosinophilia).
Leukocyte alkaline phosphatase score = decreased
Bone marrow biopsy = granulocytic hyperplasia:
Chronic -> < 5% blasts
Accelerated = 5-30% blasts
Acute blast crisis = > 20% blasts
Immunophenotyping/FISH analysis = Philadelphia chromosome
acute lymphocytic leukemia (all) PE
Hepatomegaly or splenomegaly most common finding, which can manifest as anorexia, weight loss, abdominal distention or abdominal pain.
Lymphadenopathy
acute lymphocytic leukemia (all)
CBC and peripheral smear = WBCs 5000-100,000, anemia, thrombocytopenia
Bone marrow aspiration = hypercellular with >20% blasts (definitive diagnosis)
chronic lymphocytic leukemia (cll) PE
Lymphadenopathy = Most common finding (cervical, supraclavicular axillary); LN are usually firm, round, nontender and freely mobile. Splenomegaly = painless and nontender Hepatomegaly Skin lesions (leukemia cutis)
chronic lymphocytic leukemia (cll)
CBC with peripheral smear = absolute lymphocytes > 5,000/microL; small, well-differentiated normal-appearing lymphocytes with scattered smudge cells (lab artifact when the fragile B cells become crushed by the cover slip during slide prep); neutropenia
Hypogammaglobulinemia -> increased incidence of autoimmune hemolytic anemia; may have evidence of ITP.
Immunophenotypic analysis = expression of B-cell associated antigens (CD19, CD 20, CD 23) and B-cell maturity (CD5).
Bone marrow aspiration not needed
multiple myeloma
Serum protein electrophoresis = monoclonal protein spike = IgG most common (60%)
Urine protein electrophoresis = Bence-Jones proteins
CBC and peripheral smear = ROULEAUX formations; increased ESR
Skull radiographs = “punched out” lytic lesions
Bone marrow aspiration= plasmacytosis > 10% = definitive diagnosis
hodgkin lymphoma
Excisional whole lymph node biopsy = Reed Sternberg cell pathognomonic (cells with “owl eye appearance”).
Imaging (PET/CT scan) for staging.
non hodgkin lymphoma
Lymph node and/or tissue biopsy
Staging via PET/CT scan
labs for tumor lysis syndrome
Hyperphosphatemia, hypocalcemia, hyperuricemia, hyperkalemia and acute kidney injury
