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Aplastic Anemia and Bone Marrow Failure Syndromes with Pancytopenia

Fanconi Anemia
Acquired Aplastic Anemia
Dyskeratosis Congenita & Telemore Biology
Marrow Failure Syndromes ... with Pancytopenia ... lauraebrown #Pancytopenia ... #Syndromes #BoneMarrow ... #diagnosis #Hematology
Pancytopenia - Differential Diagnosis

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

Cancer:
• Leukemia
• Lymphoma

Inflammatory
Pancytopenia - Differential ... • Fanconi’s anemia ... Wiskott-Aldrich syndrome ... #Differential # ... Diagnosis #Hematology
Causes of Neutropenia with Pancytopenia - Differential Diagnosis Algorithm
Sequestration:
 • Splenomegaly
Marrow Infiltration:
 • Hematologic and non-hematologic
Neutropenia with Pancytopenia ... - Differential ... Toxins • Aplastic Anemia ... Myelodysplasia Nutritional deficiency ... Algorithm #Causes #Hematology
Pancytopenia - Workup and Differential Diagnosis Algorithm
Consumption Disorders
 1. Autoimmune Mediated Pancytopenia
 2. Splenic Sequestration
Peripheral Destruction
and Differential ... HLH syndrome 5. ... Acquired Aplastic Anemia ... marrow failure syndrome ... #Workup #Differential
Pancytopenia - Workup and Differential Diagnosis Algorithm
Consumption Disorders
 1. Autoimmune Mediated Pancytopenia
 2. Splenic Sequestration
Peripheral Destruction
and Differential ... HLH syndrome 5 ... Acquired Aplastic Anemia ... marrow failure syndrome ... #Workup #Differential
Red Blood Cell (RBC) Morphology Atlas
 • Microcytic - Iron-deficiency anemia, Thalassemia, Sideroblastic anemia, Lead poisoning
Microcytic - Iron-deficiency ... Myelodysplastic syndrome ... Hemolytic uremic syndrome ... key #diagnosis #differential ... #hematology
Thrombocytosis - Differential Diagnosis
Platelet Count > 450
Reactive:
 • Anemia/blood loss (Fe deficiency)
 • Infection/Sepsis
 • Non-infectious
Thrombocytosis - Differential ... Reactive: • Anemia ... blood loss (Fe deficiency ... Non-infectious (malignancy, rheumatologic ... Thrombocytosis #Differential
Anemia - Underproduction Diagnostic Algorithm
 - Iron deficiency anemia
 - Anemia of chronic inflammation
 - Anemia
Algorithm - Iron deficiency ... anemia - Anemia ... and/or folate deficiency ... Underproduction #Algorithm #hematology ... #diagnosis #differential
Diagnostic Framework for Anemia (Morphological Approach - MCV)
Low MCV - <80fL - "Microcytic"
 • Iron deficiency
Microcytic" • Iron deficiency ... , Folate deficiency ... Myelodysplastic syndrome ... morphologic #mcv #differential ... diagnosis #causes #hematology
Aplastic Anemia - Overview

Who?
• M = F
• 3 peaks:	1) Childhood	2) 15-25 years	3) >60 years

What?
• Aplastic anemia
bone marrow + pancytopenia ... , GATA2 deficiency ... , CTLA4 deficiency ... • Peripheral Pancytopenia ... #oncology #hematology