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Aplastic Anemia and Bone Marrow Failure Syndromes with Pancytopenia

Fanconi Anemia
Acquired Aplastic Anemia
Dyskeratosis Congenita & Telemore Biology
Aplastic Anemia ... Marrow Failure Syndromes ... Shwachman-Diamond Syndrome ... #Pancytopenia #Syndromes ... #diagnosis #Hematology
Differential Diagnosis for Hemolytic Anemia
Intrinsic Causes:
 • Enzyme deficiencies ex. G6PD, pyruvate kinase 
 • Hemoglobinopathies
for Hemolytic Anemia ... Bartonella, Babesia ... #Hemolytic #Anemia ... classification #hematology
Red Blood Cell (RBC) Morphology Atlas
 • Microcytic - Iron-deficiency anemia, Thalassemia, Sideroblastic anemia, Lead poisoning
Iron-deficiency anemia ... Sideroblastic anemia ... Myelodysplastic syndrome ... Hemolytic uremic syndrome ... #differential #hematology
Hemolytic Anemia - Differential Diagnosis Algorithm
 • Sickle cells - Consider sickle cell disease (diverse genotypes):
Hemolytic Anemia ... (oroya fever), babesia ... ARUPLabs #Hemolytic #Anemia ... Algorithm #workup #hematology
Causes of Erythema Nodosum - Mnemonic

NO cause found in 60% of cases
Drugs (antibiotics e.g., sulfonamides, amoxicillin)
Oral
Sarcoidosis or Lofgren's syndrome ... Crohns, Bechet's Micro ... Differential #Diagnosis #Dermatology
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
 • Common Clinical Features: alveolitis, ear and
Clinical Syndrome ... vasculitis • Hematologic ... Abnormalities: macrocytic anemia ... criteria for 1) hematologic ... Autoinflammatory #Somatic #rheumatology
Causes of Thrombocytopenia - Differential Diagnosis Framework
Decreased Production:
 - Drugs (chemo, yang, sulfa, acetaminophen, NSAIDs, quinine,
Parasitic: Malaria, babesia ... antiphospholipid syndrome ... Diagnosis #Framework #hematology
Diagnostic Framework for Anemia (Morphological Approach - MCV)
Low MCV - <80fL - "Microcytic"
 • Iron deficiency
Framework for Anemia ... thalassemia • Anemia ... Normocytic" • Anemia ... Myelodysplastic syndrome ... diagnosis #causes #hematology
Differential diagnosis of schistocytes / fragmentation hemolysis:
 • Thrombotic microangiopathies (TMA)
    - TTP
hemolytic-uremic syndrome ... macroangiopathic hemolytic anemia ... " • HELLP syndrome ... differential #diagnosis #hematology
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
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- Chromosome/micro-array ... haemoglobin for anaemia ... - Chromosome/micro-array ... transfusion syndrome