Intro to Clinical Practice – Family Medicine EOR Exam Review
Hematology
Anemia
Aplastic Anemia
Etiology
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Congenital
Autoimmune – most common
Idiopathic
SLE
Chemotherapy or radiation
Toxins
Drugs
Post-viral hepatitis
Pregnancy
Paroxysmal Nocturnal hemoglobinuria
Course
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If severe:
o Rapidly fatal if not treated
S/S
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Weakness
Fatigue
Susceptibility to bacterial or fungal infections
Physical Findings
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Pallor
Purpura
Petechia
NOT Present (if so, question diagnosis)
o Hepatosplenomegaly
o Lymphadenopathy
o Bone tenderness
Diagnostic Testing
LABS
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Pancytopenia – HALLMARK
Hypocellular bone marrow aspirate
No abnormal hematopoietic cells seen
SEVERE
 Neutrophil < 500/mcL
 Platelets < 20,000
 Reticulocytes < 1%
 Bone marrow cellularity < 20%
Treatment
MILD
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Supportive
Erythropoietic growth factors
o Epoetin, Filgrastim, etc.
RBC and platelets as needed
ABX for infections
SEVERE
 If < 40yo and HLA-matched siblings
o Allogeneic bone marrow transplant
 If > 40yo or no HLA-matched siblings
o Immunosuppression with ATG plus cyclosporine
Follow-up (including referrals)
SJS
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Refer all patients to a hematologist
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Intro to Clinical Practice – Family Medicine EOR Exam Review
Hematology
Sickle cell anemia/trait
Etiology
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Course
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Autosomal recessive disorder
o Abnormal hemoglobin leads to chronic hemolytic anemia
Rate of sickling dependent on intracellular concentration of hemoglobin S
TRAIT
 Heterozygous genotype (AS)
 Hematologically normal
 Increased risk of venothromboembolism
 May experience sudden cardiac death and rhabdomyolysis during vigorous
exercise
 No treatment necessary
S/S
Acute Painful Episodes
 Due to acute vaso-occlusion
 Locations: back, long bones, chest
Physical Findings
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Jaundice
Pigment (calcium bilirubinate) gallstones
Splenomegaly (early in life)
Hepatomegaly (adult)
Poorly healing ulcers over lower tibia
Enlarged heart
Systolic murmurs
Diagnostic Testing
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Hematocrit – 20-30%
Abnormal peripheral blood smear
o Sickled RBCs
o Reticulocytosis
o Nucleated RBCs
o Howell-Jolly bodies
o Target cells
Elevated WBC count
Elevated indirect bilirubin levels
Confirmation by hemoglobin electrophoresis
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Treatment
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Follow-up (including referrals)
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Allogeneic hematopoietic stem cell transplant – children before onset of endorgan damage
Hydroxyurea (500-750 mg daily) – reduce frequency of painful crises
Supportive care – Mainstay of treatment
o Folic acid supplementation (1mg daily)
o Transfusions for aplastic crises
Exchange transfusions – tx of acute vaso-occlusive crises
Refer all to Hematologist preferably at a Comprehensive Sickle Cell Center
Admit
o Acute chest crises
o Painful episodes that do not respond to outpatient care
Thalassemia (most common inherited disorder of humans)
Etiology
 α - Gene deletion causing reduced or absent alpha-globin chain synthesis
o Primarily in individuals from SE Asia or China
SJS
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Intro to Clinical Practice – Family Medicine EOR Exam Review
Hematology
Course
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β – Point mutations causing deficient synthesis of β chains
o Primarily persons of Mediterranean origin (Italian, Greek)
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Trait
o Laboratory features without clinical impact
Intermedia
o Occasional RBC transfusion required or moderate clinical impact
Major
o Life-threatening
o Patient is transfusion dependent
o Most die of consequences of iron overload
o Born normal, but at 6 months switch from Hemoglobin F to
Hemoglobin A, develop severe anemias requiring transfusions
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S/S
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See Physical Findings
Physical Findings
α-Thalassemia
 Trait
o Minimal to no anemia
 Hemoglobin H disease (-/-, -/α)
o Chronic Hemolytic anemia
o Pallor
o Splenomegaly
β-Thalassemia
o Major (β0/β0 or β+/β+)
o Stunted growth
o Abnormal facial structures
o Pathologic fractures
o Hepatosplenomegaly
o Jaundice
o Intermedia (β+/β+ mild)
o Chronic hemolytic anemia
o Hepatosplenomegaly
o Bony deformities
o Minor (β/β0 or β/β+)
o Clinically insignificant microcytic anemia
Diagnostic Testing
SJS
α-trait
o Hematocrit 28-40%
o MCV
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Intro to Clinical Practice – Family Medicine EOR Exam Review
Hematology
o
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Normal or  RBC count
Peripheral blood smear
o Microcytic Hypochromic
o Occasional target cells
o Acanthocytes (cells with irregularly spaced spiked projections)
Hemoglobin H Disease
o Hematocrit 22-32%
o MCV
o Peripheral blood smear
o Microcytic Hypochromic
o Target cells
o Poikilocytosis
o  Retic count
o Normal or  RBC count
o Hemoglobin electrophoresis
o Hemoglobin H
β-Thalassemia Minor
o Hematocrit 28-40%
o Normal or  RBC count
o Normal retic count
o Peripheral blood smear
o Microcytic Hypochromic
o Target cells
o Basophilic stippling
o Hemoglobin electrophoresis
o  Hemoglobin A2
β-Thalassemia Major
o Hematocrit may be < 10%
o Peripheral blood smear
o Severe poilikocytosis
o Microcytic Hypochromic
o Target cells
o Basophilic stippling
o Nucleated RBCs
o Hemoglobin electrophoresis
o Little or no Hemoglobin A
o Hemoglobin F – major hemoglobin present
Treatment
Mild (α-trait or β-minor)
o No treatment
Hemoglobin H disease
o Folic acid supplementation
o Avoid medicinal iron and oxidative drugs such as sulfonamides
Severe
o Regular transfusion schedule
o Folic acid supplementation
o Splenectomy if hypersplenism
o Iron chelation therapy
o Allogeneic stem cell transplant – β-Major, only cure
Follow-up (including referrals)
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o
SJS
Refer all patients with severe
Refer any patient with unexplained microcytic anemia
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Intro to Clinical Practice – Family Medicine EOR Exam Review
Hematology
o
Minor or Intermedia – refer for genetic counseling
o
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Chronic disease
Impaired iron utilization
Reduced response to erythropoietin
Course
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Dependent on course of causative condition
S/S
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Features of causative condition
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 Serum iron
Normal or  transferrin
Normal or  ferritin
Mild or moderate normocytic or microcytic anemia
Treatment
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Address underlying condition
If severe of life-threatening
o RBC transfusions
o Epoetin alfa or darbepoetin
Follow-up (including referrals)
o
No referral necessary
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Most common cause of anemia worldwide
Chronic blood loss – Most common cause
Decreased iron absorption
o Celiac disease
o Surgical resection of stomach or bypass of jejunum
Increased requirements
o Pregnancy
o Lactation
o Children
Dietary deficiency (children, elderly, poor)
Idiopathic
Anemia of Chronic Disease
Etiology
Physical Findings
Diagnostic Testing
Iron-Deficiency Anemia
Etiology
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Course
S/S
Physical Findings
SJS
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Easy fatigability
Tachycardia
Palpitations
Tachypnea on exertion
If severe:
o Smooth tongue
o Brittle nails
o Koilonychia (nail spooning)
o Cheilosis
o Pica
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Pallor
Tachycardia
Koilonychia
Alopecia
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Intro to Clinical Practice – Family Medicine EOR Exam Review
Hematology
Diagnostic Testing
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Restless leg syndrome
Glossitis and Stomatitis
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Peripheral Blood Smear
o Hypochromic and Microcytic cells
o Anisocytosis (variations in RBC size)
o Poikilocytosis (variation in shape of RBCs)
H&H
Ferritin
MCV
Iron
TIBC
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Treatment
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Follow-up (including referrals)
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Vitamin B12 Deficiency Anemia
Etiology
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Identify cause
Oral Iron
o Ferrous sulfate 325mg TID
 Compliance limited by nausea and constipation
Parenteral Iron
Refer if diagnosis not straight forward or if not responsive to oral iron
therapy
Course
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Dietary deficiency (strict vegetarians)
Impaired absorption
o IF deficiency
 Pernicious anemia (usually older adults)
 Gastrectomy
o Malabsorption states
 Pancreatic insufficiency
 Ileal resection
 Parasites
Gradually increasing neurologic signs if not treated
S/S
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Anorexia
Diarrhea
Paresthesias
Difficulty with balance or proprioception
Dementia
Physical Findings
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Glossitis
Pallor
Decreased vibratory and position sense or memory disturbance
Diagnostic Testing
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 Serum B12 (cobalamin)
 MCV
Peripheral blood smear
o Megaloblastic
o Hypersegmented neutrophils
o  retic count
 serum Lactate Dehydrogenase
Hypercellular bone marrow
Leukopenia
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SJS
6
Intro to Clinical Practice – Family Medicine EOR Exam Review
Hematology
Treatment
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IM or Sub-q B12 injections 100mcg
o Daily for first week
o Weekly for first month
o Monthly for life
Follow-up (including referrals)
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Referral not necessary
Folic Acid Deficiency
Etiology
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Decreased intake
o Chronic alcoholics and elderly
Increased requirements
o Pregnancy
Impaired utilization
o Chemotherapy
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Course
S/S
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Similar to B12 deficiency without neuro symptoms
Physical Findings
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Similar to B12 deficiency without neuro symptoms
Diagnostic Testing
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 Folic Acid Levels
Normal B12 level
 MCV
Peripheral blood smear
o Megaloblastic
o Hypersegmented neutrophils
o  retic count
 serum Lactate Dehydrogenase
Hypercellular bone marrow
Leukopenia
Treatment
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Daily oral Folic Acid (1mg)
Follow-up (including referrals)
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Referral not necessary
SJS
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