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Pancytopenia - Differential Diagnosis

Congenital Diseases:
• GATA2 deficiency
• Fanconi’s anemia
• Wiskott-Aldrich syndrome
• Ribosomopathy or telomeropathy

Cancer:
• Leukemia
• Lymphoma

Inflammatory
: • GATA2 deficiency ... • Fanconi’s anemia ... : • Systemic lupus ... Antibody-mediated hemolysis ... Nutritional
Diagnostic Framework for Hemolysis - Intravascular vs Extravascular Causes
Intravascular Hemolysis:
 • Mechanical Trauma (Microangiopathic hemolytic anemia):
anemia): ... usually IgG) (e.g. lupus ... cold agglutin disease ... G6PD deficiency) ... diagnosis #hematology #anemia
Hemolytic Anemia - Differential Diagnosis Algorithm
Hereditary:
 • Peripheral blood smear + DAT + further History
 •
Hemolytic Anemia ... DAT (-) → G6PD Deficiency ... → Sickle Cell anemia ... malignancy, autoimmune disease ... anemia (TTP, HUS
Red Blood Cell (RBC) Morphology
Microcytic RBC: Pyridoxine deficiency, Thalassemia, Iron deficiency anemia, Chronic disease anemia (sometimes),
RBC: Pyridoxine deficiency ... disease anemia ... Microangiopathic Hemolytic ... spherocytosis, Autoimmune hemolytic ... Cold autoimmune hemolytic
Hemolytic Anemia - Differential Diagnosis Algorithm
 • Sickle cells - Consider sickle cell disease (diverse genotypes):
Hemolytic Anemia ... Consider sickle cell disease ... , Hemoglobin H disease ... ARUPConsult @ARUPLabs #Hemolytic ... #Anemia #Differential
Red Blood Cell (RBC) Morphology Atlas
 • Microcytic - Iron-deficiency anemia, Thalassemia, Sideroblastic anemia, Lead poisoning
Microcytic - Iron-deficiency ... , Liver diseases ... spherocytosis, Hemolytic ... , Liver diseases ... Schistocytes - Hemolytic
Algorithmic Approach to Anemia - Differential Diagnosis Framework by MCV

Microcytic (MCV < 80) "TAILS":
 • Thalassemia
inflammation) • Iron deficiency ... -100): • Non-hemolytic ... , CKD • Hemolytic ... , B12 deficiency ... Non-megaloblastic: Liver disease
Causes of Iron Deficiency
 • Diet: ↓ Intake, e.g. vegan, Malnutrition, Polyphenol / tannins, ↓ Vitamin
Causes of Iron Deficiency ... : IBD, Chronic disease ... hepcidin) • Others: Hemolysis ... differential #diagnosis #anemia ... #nutrition
Peripheral Blood Smear Analysis
Hypochromia
Megaloblastic Anemia
Schistocytes: Microangiopathic hemolytic anemia (e.g. DIC, TTP, HUS)
Microspherocytes: Autoimmune hemolytic anemia
Sickled red
Microangiopathic hemolytic ... anemia (e.g. ... Microspherocytes: Autoimmune hemolytic ... cells: Sickle cell disease ... Bite cells: G6PD deficiency
Risk Factors and Signs of Copper Deficiency
Risk Factors:
 • Gastrointestinal: Previous upper bowel resection/bariatric surgery, Inflammatory
Signs of Copper Deficiency ... • Nutritional: ... /jejunal nutrition ... Haematological: Anaemia ... drkeithsiau #Copper #Deficiency