Summary
Definition
History and exam
Key diagnostic factors
- fatigue
- dyspnoea on exertion
- pica
- restless legs syndrome
- nail changes
- dysphagia
Other diagnostic factors
- impaired muscular performance
- glossitis and angular stomatitis
- dyspepsia
- pallor
- hair loss
- rectal lesion on examination
- growth impairment
- cognitive and behavioural impairment
- heart failure
- recurrent infections
Risk factors
- pregnancy
- vegetarian and vegan diet
- menorrhagia
- hookworm infestation
- chronic kidney disease
- coeliac disease
- gastrectomy/achlorhydria
- non-steroidal anti-inflammatory drug (NSAID) use
- chronic heart failure
- premature or low birth weight
- infant feeding with cows' milk
- black women and Mexican women
- low socioeconomic status
- obesity
- Helicobacter pylori infection
Diagnostic investigations
1st investigations to order
- haemoglobin and haematocrit
- platelet count
- MCV
- MCH
- MCHC
- red cell distribution width
- peripheral blood smear
- reticulocyte count
- serum iron
- total iron-binding capacity
- transferrin saturation
- serum ferritin
- coeliac serology
- urinalysis
- Helicobacter pylori testing
Investigations to consider
- haemoglobin electrophoresis
- urease breath test
- autoimmune gastritis testing
- upper gastrointestinal endoscopy (oesophagogastroduodenoscopy)
- small-bowel biopsy
- lower gastrointestinal endoscopy (colonoscopy)
- CT colonography
- transferrin receptor-ferritin index
- bone marrow biopsy
- monitored trial of iron
- faecal occult blood tests
Emerging tests
- urinary hepcidin
- percentage of hypochromic erythrocytes
- reticulocyte haemoglobin content
- erythrocyte protoporphyrin
Treatment algorithm
all patients
Contributors
Authors
Atul Mehta, MD
Consultant Haematologist
Lysosomal Storage Disorders Unit
Department of Haematology
Royal Free Hospital
London
UK
Disclosures
AM has received honoraria, travel, and research grants from Sanofi/Genzyme, Shire/Takeda/Amicus and Protalix/Pfizer; all of these companies manufacture pharmaceutical therapies for the treatment of lysosomal disorders.
Acknowledgements
Dr Atul Mehta would like to gratefully acknowledge Dr Martina Murphy, Dr Marc Zumberg, and Dr Rebecca Fischer Connor, previous contributors to this topic.
Disclosures
MZ declares that he is medical director for NCF Diagnostics and DNA Technologies, and a consultant for Alexion Pharmaceuticals. MM and RFC declare that they have no competing interests.
Peer reviewers
Carlos Aravena, MD
Internal Medicine Instructor
Member of Evidence Based Medicine Unit
Catholic University of Chile
Santiago
Chile
Disclosures
CA declares that he has no competing interests.
Jim Murray, MBBS
Consultant Haematologist
Clinical Haematology
University Hospital Birmingham NHS Trust
Birmingham
UK
Disclosures
JM declares that he has no competing interests.
Ajay Kumar, MD, FACP
Medical Director
Blood Management
Cleveland Clinic
Cleveland
OH
Disclosures
AK has received a fee for speaking about perioperative blood management from Ortho-Biotech, and has also received reimbursement from medscape.com for the education webcast of the same presentation.
Differentials
- Anaemia of chronic disease
- Disorders of globin synthesis (thalassaemias, haemoglobin E, haemoglobin C, unstable haemoglobins)
- Sideroblastic anaemias
More DifferentialsGuidelines
- Guideline for the laboratory diagnosis of iron deficiency in adults (excluding pregnancy) and children
- Chronic kidney disease: assessment and management
More GuidelinesPatient information
Anaemia, iron deficiency
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