Hematology and oncology- Phatology

Question 1

Acanthocytes (“spur cells”)

Answer 1

Liver disease, abetalipoproteinemia (states of cholesterol dysregulation).

Acantho = spiny

Question 2

Basophilic stippling

Answer 2

Sideroblastic anemias (eg, lead poisoning, myelodysplastic syndromes), thalassemias.

*Seen primarily in peripheral smear, vs ringed sideroblasts seen in bone marrow.

Question 3

Dacrocytes (“teardrop cells”)

Answer 3

Bone marrow infiltration (eg, myelofibrosis), thalassemias.

RBC “sheds a tear” because it’s mechanically squeezed out of its home in the bone marrow.

Question 4

Degmacytes (“bite cells”)

Answer 4

G6PD deficiency.

Question 5

Echinocytes (“burr cells”)

Answer 5

End-stage renal disease, liver disease, pyruvate kinase

deficiency.

Question 6

Elliptocytes

Answer 6

Hereditary elliptocytosis (espectrin), usually asymptomatic

Question 7

Macro-ovalocytes

Answer 7

Megaloblastic anemia (also hypersegmented PMNs)

Question 8

Ringed sideroblasts

Answer 8

Sideroblastic anemia. Excess iron in mitochondria.

Seen in bone marrow with special staining (Prussian blue),

Question 9

Schistocytes

Answer 9

Microangiopathic hemolytic anemias, including DIC, TTP/HUS, HELLP syndrome, mechanical hemolysis

Question 10

Sickle cells

Answer 10

Sickle cell anemia.

Question 11

Spherocytes

Answer 11

Hereditary spherocytosis, drug- and infection-induced hemolytic anemia.

Small, spherical cells without central pallor.

Question 12

Target cells

Answer 12

“HALT,”

HbC disease, Asplenia, Liver disease, Thalassemia.

Question 13

Heinz bodies

Answer 13

Seen in G6PD deficiency.

Question 14

Howell-Jolly bodies

Answer 14

Seen in patients with functional hyposplenia or asplenia.

Basophilic nuclear remnants found in RBCs

Question 15

Anemias Algorithm

Answer 15

Pag. 406

Question 16

Iron deficiency anemia

• Labs
• Symptoms

Answer 16

Labs: Low iron, HighTIBC, Low ferritin, High free erythrocyte protoporphyrin, High RDW. Microcytosis and hypochromasia (central pallor).

Symptoms: fatigue, conjunctival pallor, pica, spoon nails
(koilonychia). May manifest as glossitis, cheilosis.

Question 17

α-thalassemia

• α-thalassemia minima
• α-thalassemia minor

Answer 17

(α α/α –). No anemia (silent carrier)

(α –/α –; trans) or (α α/– –; cis). Mild microcytic, hypochromic anemia

Question 18

α-thalassemia

• Hemoglobin H disease (HbH); β4
• Hemoglobin Barts disease (Hb Barts); γ4

Answer 18

(– –/– α). Moderate to severe microcytic hypochromic anemia.

(– –/– –). Hydrops fetalis; incompatible with life

Question 19

β-thalassemia

• β-thalassemia minor (heterozygote)
• HbS/β-thalassemia heterozygote

Answer 19

β chain is underproduced. Usually asymptomatic. Diagnosis confirmed by HbA2 (> 3.5%) on electrophoresis.

mild to moderate sickle cell disease depending on amount of β-globin production.

Question 20

β-thalassemia

- β-thalassemia major (homozygote)

Answer 20

severe microcytic, hypochromic ,anemia with target cells and increased anisopoikilocytosis requiring blood transfusion (2° hemochromatosis).

skeletal deformities. “Chipmunk” facies. hepatosplenomegaly. risk of parvovirus B19–induced aplastic crisis. 

HbF (α2γ2), HbA2 (α2δ2).

Question 21

Lead poisoning

• Mechanism
• Clinical features
• Treatment

Answer 21

Lead inhibits ferrochelatase and ALA dehydratase.

“LEAD”

• Lead Lines on gingivae (Burton lines) and on metaphyses of long bones on x-ray.
• Encephalopathy and Erythrocyte basophilic stippling.
• Abdominal colic and sideroblastic Anemia.
• Drops—wrist and foot drop.

Dimercaprol and EDTA are 1st line of treatment. Succimer used for chelation for kids

Question 22

Sideroblastic anemia

• Etiology
• Labs
• Treatment

Answer 22

Genetic (eg, X-linked defect in ALA synthase gene), acquired (myelodysplastic syndromes), and reversible (alcohol is most common).

High iron, normal/Low TIBC, High ferritin. Ringed sideroblasts. basophilic stippling.

Treatment: pyridoxine (B6, cofactor for ALA synthase).

Question 23

Megaloblastic anemia

• Mechanism
• Cell morphology
• Etiology

Answer 23

Impaired DNA synthesis. delayed relative to maturation of cytoplasm.

RBC macrocytosis, hypersegmented neutrophils, glossitis.

• Folate deficiency, Vitamin B12 (cobalamin) deficiency, Orotic aciduria

Question 24

Folate deficiency

• Etiology
• Labs

Answer 24

Causes: malnutrition, malabsorption, drugs (eg, methotrexate, trimethoprim, phenytoin),  requirement (eg, hemolytic anemia, pregnancy).

High homocysteine, normal methylmalonic acid.

*No neurologic symptoms

Question 25

Vitamin B12 (cobalamin) deficiency

Answer 25

Causes: pernicious anemia, malabsorption, gastrectomy, insufficient intake, Diphyllobothrium latum (fish tapeworm). High homocysteine, High methylmalonic acid. *Neurologic symptoms. Historically diagnosed with the Schilling test.

Question 26

Orotic aciduria - Phatogeny - Diagnosis

Answer 26

Inability to convert orotic acid to UMP (de novo pyrimidine synthesis pathway) because of defect in UMP synthase. AR Orotic acid in urine.

Question 27

Orotic aciduria - Clinical presentation - Treatment

Answer 27

Presents in children as failure to thrive, developmental delay, and megaloblastic anemia refractory to folate and B12. Treatment: uridine monophosphate or uridine triacetate to bypass mutated enzyme.

Question 28

Diamond-Blackfan anemia - Etiology - Labs - Clinical features

Answer 28

Rapid-onset anemia within 1st year of life due to intrinsic defect in erythroid progenitor cells. High % HbF (but  total Hb). Short stature, craniofacial abnormalities, and upper extremity malformations (triphalangeal thumbs) in up to 50% of cases.

Question 29

Intravascular hemolysis - Findings - Etiology

Answer 29

Low haptoglobin, schistocytes on blood smear. Characteristic hemoglobinuria, hemosiderinuria, and urobilinogen in urine. Notable causes are mechanical hemolysis (eg, prosthetic valve), paroxysmal nocturnal hemoglobinuria, microangiopathic hemolytic anemias.

Question 30

Extravascular hemolysis | - Findings

Answer 30

Findings: macrophages in spleen clear RBCs. Spherocytes in peripheral smear, no hemoglobinuria/ hemosiderinuria. Can present with urobilinogen in urine

Question 31

Anemia of chronic disease - Etiophatogeny - Labs - RBC morphology

Answer 31

Inflammation, high hepcidin. Low iron, Low TIBC, High ferritin. Normocytic, but can become microcytic.

Question 32

Aplastic anemia | - Etiologies

Answer 32

- Radiation and drugs (eg, benzene, chloramphenicol, alkylating agents, antimetabolites). - Viral agents (EBV, HIV, hepatitis viruses) - Fanconi anemia; also short stature, incidence of tumors/leukemia, café-au-lait spots, thumb/radial defects. - Idiopathic (immune mediated, 1° stem cell defect); may follow acute hepatitis

Question 33

Aplastic anemia - Labs - Morphology

Answer 33

Pancytopenia characterized by anemia, leukopenia, and thrombocytopenia. Normal cell morphology, but hypocellular bone marrow with fatty infiltration

Question 34

Hereditary spherocytosis - Etiology - Clinical features - Labs - Treatment

Answer 34

Defects RBC membrane (eg, ankyrin, band 3, protein 4.2, spectrin). AD Splenomegaly, aplastic crisis (parvovirus B19 infection). Labs:  fragility in osmotic fragility test. Normal to  MCV with abundance of cells. Treatment: splenectomy.

Question 35

G6PD deficiency - Etiology - Findings

Answer 35

Most common enzymatic disorder of RBCs. XR Hemolytic anemia following oxidant stress (eg, sulfa drugs, antimalarials, infections, fava beans). Back pain, hemoglobinuria a few days after oxidant stress.

Question 36

Pyruvate kinase deficiency - Hereditance - Clinical presentation

Answer 36

AR. Increases levels of 2,3-BPG. Hemolytic anemia in a newborn

Question 37

Paroxysmal nocturnal hemoglobinuria - Etiology - Clinical presentation - Labs - Treatment

Answer 37

intravascular RBC lysis. acquired mutation in PIGA gene, with impaired GPI and decay of CD55 and CD59. Triad: Coombs ⊝ hemolytic anemia, pancytopenia, venous thrombosis. Patients may report red or pink urine. Labs: CD55/59 ⊝ RBCs on flow cytometry. Treatment: eculizumab (inhibits terminal complement formation).

Question 38

Sickle cell anemia - Etiology - Presipitants

Answer 38

HbS point mutation causes a single amino acid replacement in β chain (substitution of glutamic acid with valine). low O2, high altitude, or acidosis precipitates sickling anemia, vaso-occlusive disease. “Crew cut” on skull x-ray due to marrow expansion from  erythropoiesis (also seen in thalassemias). 8% of African Americans carry an HbS allele.

Question 39

Sickle cell anemia | - Complications

Answer 39

- Aplastic crisis (due to parvovirus B19). - Autosplenectomy - Splenic infarct/sequestration crisis. - Salmonella osteomyelitis. - Painful crises (vaso-occlusive): dactylitis, priapism, acute chest syndrome, avascular necrosis, stroke. - Sickling in renal medulla (low Po2), renal papillary necrosis, microhematuria.

Question 40

Sickle cell anemia - Diagnosis - Treatment

Answer 40

hemoglobin electrophoresis. hydroxyurea ( HbF), hydration.

Question 41

HbC disease - Etiology - Cells morphology

Answer 41

Glutamic acid–to-lyCine (lysine) mutation in β-globin. Causes extravascular hemolysis. Blood smear in homozygotes: hemoglobin Crystals inside RBCs, target cells.

Question 42

Autoimmune hemolytic anemia | - Types

Answer 42

Warm (IgG)—chronic anemia seen in SLE and CLL and with certain drugs (eg, α-methyldopa). Cold (IgM and complement)—acute anemia triggered by cold; seen in CLL, Mycoplasma pneumoniae infections, and infectious Mononucleosis.

Question 43

Autoimmune hemolytic anemia | - Diagnosis

Answer 43

Autoimmune hemolytic anemias are usually Coombs ⊕. Direct Coombs test—anti-Ig antibody (Coombs reagent) added to patient’s RBCs. Indirect Coombs test—normal RBCs added to patient’s serum.

Question 44

Microangiopathic anemia | - Etiologies

Answer 44

DIC, TTP/HUS, SLE, HELLP syndrome, hypertensive emergency.

Question 45

Neutropenia

Answer 45

Absolute neutrophil count < 1500 cells/mm3 | Severe infections typical when < 500 cells/mm3

Question 46

Lymphopenia

Answer 46

Absolute lymphocyte count < 1500 cells/mm3 (

Question 47

Eosinopenia

Answer 47

Absolute eosinophil count < 30 cells/mm3

Question 48

Anormalities on Lymphoid cells caused by Corticosteroids

Answer 48

Corticosteroids cause neutrophilia, despite causing eosinopenia and lymphopenia.

Question 49

Left shift

Answer 49

Increase neutrophil precursors. Called leukoerythroblastic reaction when left shift is seen with immature RBCs. Occurs with severe anemia or marrow response.