Summary
Definition
History and exam
Key diagnostic factors
- older age
- asymptomatic
- fatigue
- exercise intolerance
- pallor
- petechiae, purpura
- bacterial infections
Other diagnostic factors
- presence of risk factors
- autoimmune disorders
- splenomegaly
- hepatomegaly
- lymphadenopathy
Risk factors
- age >70 years
- ionising radiation
- alkylating agents
- topoisomerase inhibitors
- prior haematopoietic stem cell transplantation
- tobacco
- benzene
- aplastic anaemia
- paroxysmal nocturnal haemoglobinuria (PNH)
- Down's syndrome (trisomy 21)
- congenital neutropenia
- DNA repair deficiency syndromes
Diagnostic investigations
1st investigations to order
- FBC with differential
- reticulocyte count
- red blood cell folate
- serum B12 levels
- iron studies
- HIV testing
- bone marrow aspiration with iron stain
- bone marrow core biopsy
- bone marrow cytogenetic analysis
Investigations to consider
- serum erythropoietin
- HLA typing
- flow cytometry
Treatment algorithm
Contributors
Authors
Staff Physician
VA Nebraska-Western Iowa Health Care System
Professor
Division of Oncology-Hematology
Department of Internal Medicine
University of Nebraska Medical Center
Omaha
NE
Disclosures
AKG has received research support from Amgen, Apexigen, Bristol-Myers Squibb, Janssen, Merck, New Link Genetics, Pfizer, and Takeda Oncology. AKG has been reimbursed for consulting work for AbbVie and Genentech. None of the grants or payments relate to work involving myelodysplastic syndrome.
Assistant Professor
Division of Oncology-Hematology
University of Nebraska Medical Center
Omaha
NE
Disclosures
AM declares that she has no competing interests.
Peer reviewers
Associate Professor of Medicine (Hematology) and Oncology
Division of Hematology
Department of Medicine
Mayo Clinic
Rochester
MN
Disclosures
DPS declares that he has no competing interests.
Professor of Haematology
Queen Mary University
London
UK
Disclosures
ACN declares that he has no competing interests.
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