Approach
The urgency with which anaemia is evaluated depends on the severity at presentation and whether the patient has active or acute bleeding.
Initial assessment of patients with active or acute bleeding
Evaluation should include identification of any source of active or acute bleeding. Gastrointestinal investigation should be considered on an urgent basis in adults with a new diagnosis of iron deficiency anaemia without an obvious explanation.[13]
The initial goal in a patient with acute bleeding is rapid haemodynamic stabilisation. Up to 30% of total blood volume may be lost before clinical manifestations are observed at rest.
Patients with an acute severe haemorrhage present with symptoms and signs of hypovolaemia and the underlying cause.[10]
Key signs of hypovolaemia include hypotension, pallor, cold clammy skin, thready pulse, tachycardia, dyspnoea and altered mental status. Flat neck veins when supine are suggestive of volume loss. All orifices should be examined for bleeding.
History of prior episodes of gastrointestinal bleeding, gastritis, inflammatory bowel disease, non-steroidal anti-inflammatory drug (NSAID) or corticosteroid use, alcohol misuse, or cirrhosis should prompt suspicion of gastrointestinal bleeding. NSAIDs and corticosteroids are associated with peptic ulcer disease. Alcohol misuse and cirrhosis are associated with coagulation disorders and oesophageal varices. A lower gastrointestinal bleed presents with fresh red rectal bleeding (haematochezia). Melaena and/or haematemesis with or without abdominal pain indicate an upper gastrointestinal bleed.
Sudden tearing pain should prompt suspicion of a ruptured vascular aneurysm; the pain may be spontaneous, or precipitated by trauma or by cocaine or amphetamine use. Loss of consciousness may occur if a major vessel is involved. A history of hypertension or collagen disorders may also be present. A wide pulse pressure suggests a ruptured aneurysm. A pulsatile abdominal mass may indicate an abdominal aortic aneurysm. Flank or abdominal ecchymosis suggests intra-abdominal bleeding.
The mechanism and site of any trauma should be determined.
If there is a history of recent surgery, ongoing blood loss at the surgical site must be considered. A detailed history of the pre-, intra-, and postoperative course should be obtained, including any complications noted during the operation. Any antibiotics administered should be noted, as some can decrease platelet levels.
A history of bleeding disorders or excessive bruising may indicate an underlying coagulation disorder.
Jaundice, especially when accompanied by fatigue and pallor, with episodic dark urine suggests a haemolytic process, particulary in patients with recent infection, new medications, or history of malignancy.
Tests are guided by the history, examination, and suspected aetiology of active bleeding, and may include the following:
Full blood count (FBC): shows a normocytic anaemia with a high reticulocyte count (>2%) and a normal or decreased haematocrit (Hct). Dilution does not occur initially, so haemoglobin (Hb) and Hct do not accurately reflect the true severity of the anaemia.
Prothrombin time/activated partial prothrombin time: usually normal, but tested to identify patients with decreased coagulation due to anticoagulants, underlying defects in haemostasis, or consumptive coagulopathy. In patients with upper gastrointestinal bleeding, elevated urea may be seen, even in the absence of renal impairment, due to digestion of blood, which is a source of urea.
Abdominal ultrasound scan: allows rapid identification of intra-abdominal bleeding and indicated if abdominal trauma or a ruptured abdominal aortic aneurysm are suspected.
Joint x-rays: indicated in patients with trauma to identify fractures. Long-bone fractures can be a significant source of bleeding.
Computed tomography scan (of the body region affected by trauma or aneurysm rupture): will identify internal injuries or the extent and nature of the aneurysm, and identify sources of bleeding.
Upper gastrointestinal endoscopy: to identify sources of upper gastrointestinal bleeding.[78][79]
Colonoscopy, required to identify sources of lower gastrointestinal bleeding.
Capsule endoscopy: may have diagnostic, but not therapeutic, utility in situations where there is concern for gastrointestinal bleeding in inaccessible areas such as the small bowel.[80]
Exploratory laparotomy: may be required in patients with abdominal bleeding to identify the source, especially if there is a history of abdominal trauma or previous abdominal surgery.
Patients without active or acute bleeding
Many anaemic patients with no acute or active bleeding are asymptomatic, and the anaemia is only noted on an FBC taken as part of the assessment of an unrelated condition. The duration of anaemia must be investigated, if possible.
Generally, healthy individuals tolerate extreme anaemia well, with cardiovascular status being the major limiting factor.
Symptoms of anaemia may include fatigue, weakness, decreased exercise tolerance, shortness of breath with exercise, palpitations, dizziness, irritability and impaired concentration.
There is a strong relationship between pica (a medical disorder in which children develop an appetite for non-nutritive substances) and iron deficiency. Information about pica should actively be sought in high-risk groups.[81]
Pallor (conjunctival, nailbed, palmar, tongue, or generalised) may be seen in patients with anaemia.[82] However, studies have shown significant variability in the sensitivity of clinical pallor to detect anaemia among different populations.[83][84] Jaundice is an additional sign seen in patients with haemolytic anaemia.
The first step in diagnosis is to identify the type of anaemia that is present using the results of the FBC.
How to take a venous blood sample from the antecubital fossa using a vacuum needle.
Due to their relative reproducibility, mean corpuscular volume (MCV) and red cell width are the most useful components in the initial classification of most anaemias.
The anaemia may be:
Microcytic (MCV <80 femtolitres [fL]): serum iron studies should be performed.[4]
Normocytic (MCV 80-100 femtolitres [fL]): the reticulocyte count should be examined to determine whether the anaemia is hypoproliferative (<2%) or hyperproliferative (>2%).
Macrocytic (MCV >100 femtolitres [fL]): the peripheral smear should be examined for megaloblasts and hypersegmented neutrophils. If these cells are present, the anaemia is megaloblastic. If they are absent, the anaemia is non-megaloblastic. [Figure caption and citation for the preceding image starts]: Algorithm for the assessment of anaemiaCreated by the BMJ Knowledge Centre [Citation ends].
Microcytic anaemia: abnormal serum iron studies
A low serum iron, an elevated total iron-binding capacity (TIBC), and a low ferritin indicate iron deficiency anaemia. Serum ferritin is the most sensitive and specific test for iron deficiency.[4]
The American Gastroenterological Association recommends a ferritin cut-off of 45 ng/mL (rather than 15 ng/mL) when ferritin is used to diagnose iron deficiency.[22] Increased ferritin threshold may help to identify patients with iron deficiency anaemia in whom inflammation due to rheumatological disease, chronic infections, or malignancy gives rise to increased ferritin levels (>15 ng/mL).[22][86][87][88]
[ 
]
The trade-off between higher sensitivity and lower specificity using the higher threshold of 45 ng/mL provides an acceptable balance of benefits (fewer missed diagnoses) compared with potential harms (additional diagnostic evaluations).[22]
Iron deficiency produces an associated reactive thrombocytosis, which provides an additional clue.
Iron deficiency is not a diagnosis and requires further investigation to elucidate the cause.
Associated symptoms may indicate a source of chronic bleeding e.g., heavy menstrual bleeding, coffee-ground vomiting, haematemesis, melena, rectal pain or rectal bleeding. Haemoptysis may indicate Goodpasture's syndrome or idiopathic pulmonary haemosiderosis. A history of dark-colored urine may indicate paroxysmal nocturnal haemoglobinuria.
Enquire about the patient's diet. Diets low in meat may produce iron deficiency. Generalised malnutrition often produces combined vitamin B12 and/or folate deficiency, in which case the resulting anaemia is normocytic. Children may have pica.
Alcohol misuse and cirrhosis are associated with coagulation disorders and oesophageal varices.
Rarely, a history of excessive blood donation or self-harm may be elicited. Patients who are avid runners may have runner's anaemia from repetitive mechanical trauma (also known as march haematuria). A history of gastric surgery, coeliac disease, or extensive small bowel resection suggests malabsorption as the cause.[89] Pregnancy is a common cause of iron deficiency.[59][90]
Signs of iron deficiency include koilonychia, angular cheilosis, glossitis, and thinning hair. Peripheral blood smear may show pencil cells.[91][Figure caption and citation for the preceding image starts]: KoilonychiaReproduced with permission from Bickle Ian. Clinical exam skills: Hand signs BMJ 2004;329:0411402 [Citation ends].
[Figure caption and citation for the preceding image starts]: Angular cheilosisScience Photo Library [Citation ends].
Investigations are guided by the history and examination.
Faecal occult blood testing: concern may exist that iron-deficiency anaemia results from blood loss attributable to an underlying gastrointestinal malignancy (of the stomach, oesophagus, or more commonly colon).[92] Positive if gastrointestinal bleeding is present.
Faecal immunochemical tests (FITs): UK guidelines recommend certain quantitative FITs to guide referral for suspected colorectal cancer in adults with iron-deficiency anaemia.[93][94] Patients aged 60 years and over with anaemia should be tested, even in the absence of iron deficiency.[93][94] Refer to guidelines for an exhaustive list of signs and/or symptoms that may prompt assessment for suspected colorectal cancer.[93][94][95]
Upper gastrointestinal endoscopy: performed if there is a history of upper gastrointestinal bleeding or a positive faecal occult blood test. It may identify sources of an upper gastrointestinal bleed (peptic ulcer disease, gastritis, oesophageal varices), hiatus hernia, Meckel's diverticulum, or increased gastric pH in achlorhydria.
Helicobacter pylori testing: may be considered when upper gastrointestinal endoscopy is negative in the setting of persistent iron deficiency anaemia.[96]
Immunoglobulin A-tissue transglutaminase (IgA-tTG): performed in all patients with iron-deficiency anaemia; positive in coeliac disease.
Colonoscopy: performed if there is a history of lower gastrointestinal bleeding, a positive faecal occult blood test, or a positive FIT test. Colonoscopy may reveal malignancy, diverticular disease, ulcerative colitis, or rare causes such as hereditary haemorrhagic telangiectasia.
Flow cytometry: considered if there is a history of passing red urine, or RBC results consistent with a haemolytic anaemia. It detects decreased expression of RBC surface proteins (CD55 and CD59) and is diagnostic of paroxysmal nocturnal haemoglobinuria.
Transvaginal ultrasound: may reveal causes of menorrhagia including hyperplasia, dysplasia, fibroids, polyps or malignancy.
Stool microscopy: may identify hookworm, whipworm, or Schistosoma eggs. This should be performed if clinical features suggest the diagnosis or there is a history of travel to endemic areas.
A low serum iron, a low TIBC, and a low/normal ferritin suggest co-existence of anaemia of chronic disease with iron deficiency.
A history of an underlying inflammatory process (infection, neoplasms, autoimmune reactions, and injury to tissue from trauma or major surgery) is usually present. Serum C-reactive protein may be raised.[32]
A serum erythropoietin level should be considered; the result is usually normal or mildly elevated. Ferritin is an acute phase protein and serum levels can rise in inflammatory conditions, liver disease and malignancy, even though iron stores are low.[97] Hypothyroidism and vitamin C deficiency may produce a falsely low ferritin level.[98]
Microcytic anaemia: normal serum iron studies
The most important cause to exclude is thalassaemia, especially in areas where it may coexist with iron deficiency. A family history is usually present. The disease is more common in individuals of Mediterranean, Middle Eastern, African, or Southeast Asian descent.[46][47]
Examination findings may be normal, or reveal splenomegaly, jaundice, and abdominal distension. Morphological changes including skeletal abnormalities, large head, chipmunk facies, and misaligned teeth are seen in beta-thalassaemia intermedia and major.
Distinct features on the FBC that suggest the diagnosis include a marked decrease in MCV (usually close to 70 femtolitres [fL]) with a low mean corpuscular Hb, target cells on the peripheral smear, and an elevated reticulocyte count (>2%).[91] A Mentzer's index (MCV/RBC) <13 is suggestive of thalassaemia, and an index >14 suggests iron deficiency.[99] One meta-analysis concluded that none of the various mathematical indices used to distinguish between iron deficiency anaemia and thalassaemias was sufficiently sensitive or specific to make a definitive diagnosis.[100]
Thalassaemia is diagnosed based on Hb analysis using high-performance liquid chromatography, capillary electrophoresis, mass spectrometry, and isoelectric focusing.[46] The presence of Hb H, Hb Bart, and concomitant haemoglobinopathies (Hb E, Hb S, Hb C, Hb D) is diagnostic of alpha-thalassaemia. Elevated HbF with low or absent HbA and mildly elevated HbA2 is diagnostic of beta-thalassaemia. Conditions such as B12 or folate deficiency, or hypothyroidism, may cause elevation of HbA2 and confound diagnosis. Iron deficiency anaemia can occasionally normalize HbA2 and mask beta-thalassaemia minor. Significantly elevated HbF is typically seen in patients with beta-thalassemia major.
Differential diagnosis of microcytic anaemia is important in children, especially in regions where iron-deficiency anaemia and thalassaemia are both prevalent. One study conducted in Turkey found that serum iron, ferritin, TIBC, MCV, and Mentzer index were all valuable markers in diagnosing iron-deficiency anaemia and were significantly different compared with patients with beta-thalassaemia trait; RBC distribution width was not different between the two groups.[101]
Normocytic anaemia: hypoproliferative
Haematological malignancies and aplastic anaemia are the most important diagnoses to exclude, and are usually associated with multiple cytopenias.[39] An isolated anaemia is usually due to pure red cell aplasia. Chronic kidney disease or hypothyroidism can also cause an isolated anaemia.[28][102]
History
Enquire about symptoms (bleeding, easy bruising, night sweats, or weight loss suggestive of haematological malignancy or aplastic anaemia) and risk factors for infections which can cause self-limiting pure red cell aplasia, such as parvovirus infection, infectious mononucleosis, viral hepatitis, malaria, respiratory infections, gastroenteritis and mumps.
Medication: phenytoin, carbamazepine, sodium valproate, azathioprine, sulfonamides, isoniazid and procainamide cause pure red cell aplasia. Benzene, penicillamine, and gold can cause aplastic anaemia. Chloramphenicol can cause either aplastic anaemia or pure red cell aplasia. Chemotherapy causes pancytopenia.[103]
Radiotherapy, especially to pelvic or sternal areas, can cause pancytopenia.
A history of autoimmune disease or chronic hepatitis suggests persistent pure red cell aplasia.
There may be a history or features of chronic kidney disease or hypothyroidism.
Examination
Ecchymoses or petechiae due to thrombocytopenia suggest haematological malignancy, myelodysplastic syndrome, or aplastic anaemia.
Lymphadenopathy or fever suggest malignancy or infections.
Splenomegaly may be seen in haematological malignancies. Massive splenomegaly may be seen in patients with hairy cell leukaemia.
Initial investigations
Should be guided by the history and examination findings.
FBC may show an associated cytopenia and characteristic changes specific to a haematological malignancy. A pancytopenia suggests aplastic anaemia, or may be due to chemotherapy or radiotherapy. An isolated anaemia suggests pure red cell aplasia or anaemia due to chronic kidney disease.
Bone marrow biopsy is required for the definitive diagnosis of acute leukaemia (acute lymphoblastic leukaemia, acute myelogenous leukaemia), chronic myeloid leukaemia, aplastic anaemia, or bone marrow metastases.
Antiparvovirus antibodies are positive in parvovirus infection, the most common infectious cause of pure red cell aplasia.
Other tests to consider
Hepatitis serology: to exclude acute or chronic active hepatitis
Monospot test (heterophile antibodies) or Epstein-Barr virus-specific antibodies: to exclude infectious mononucleosis. Viral capsid antigen-IgM (VCA-IgM) is detectable in most patients with symptom onset
Thick and thin peripheral smear: to exclude malaria if history and clinical findings suggest the diagnosis
Thyroid function tests: thyroid-stimulating hormone is elevated and free thyroxine reduced in hypothyroidism
Antinuclear antibodies: positive in systemic lupus erythematosus or scleroderma
Rheumatoid factor: may be positive in rheumatoid arthritis
Serum creatine kinase: elevated in dermatomyositis
Erythropoietin levels: may be inappropriately decreased in patients with chronic renal failure. Serum calcium and parathyroid hormone levels should be considered if associated secondary hyperparathyroidism is suspected
Chest x-ray: may show infiltrates in atypical pneumonia or a smooth mass in thymoma
Normocytic anaemia: hyperproliferative
Potential diagnoses include haemorrhage and haemolytic anaemias.
History
Drugs that can cause haemolysis include penicillin, methyldopa, levodopa, quinidines, cephalosporins, and some NSAIDs. Cyclosporine, tacrolimus, clopidogrel, oral contraceptive pills, and some chemotherapy drugs may cause haemolytic uraemic syndrome.
There may be a history suggestive of microangiopathic disease. Known triggers of disseminated intravascular coagulation (DIC) include ongoing severe infection, sepsis, malignancy, obstetric emergency, trauma, burns, pancreatitis, liver failure, envenomation, drug overdose, or any cause of endothelial damage.
The presence of acute-onset neurological symptoms, including headache, confusion, focal weakness, seizures, or coma, should prompt suspicion of thrombotic thrombocytopenic purpura. Female patients may have associated menorrhagia.
Sudden-onset dizziness, headache, mental status changes, loss of sensation or motor strength, chest pain or pressure, dyspnoea, or oedema in a patient with known hypertension should prompt suspicion of malignant hypertension; a history of renal failure or eclampsia may also be present.
An expanding vascular skin lesion in a young infant or child should prompt suspicion of a haemangioma.
A history of prosthetic valve replacement may indicate haemolysis induced by the prosthesis.
Bloody diarrhoea should prompt suspicion of Escherichia coli infection and haemolytic uraemic syndrome.
Persistent pain in the skeleton, chest, or abdomen; priapism; lower-extremity skin ulcers; or an acute pneumonia-like syndrome suggest sickle cell anaemia.
Patients with inherited haemolytic anaemias such as sickle cell anaemia, hereditary spherocytosis, or glucose-6-phosphate dehydrogenase (G6PD) deficiency may have a positive family history.
There may be a previous history of autoimmune disease (e.g., systemic lupus erythematosus, rheumatoid arthritis, or scleroderma) or lymphoproliferative disorders (usually non-Hodgkin's lymphoma or chronic lymphocytic leukaemia), which can lead to autoimmune haemolytic anaemia. Note that autoimmune diseases may also cause pure red cell aplasia, in which case the reticulocyte count would be low, with normal lactate dehydrogenase, haptoglobin, and bilirubin levels.
Recent blood transfusion may indicate haemolysis due to a transfusion reaction.[104]
Occupational or home exposure to lead should prompt suspicion of lead toxicity.
Examination
Features of microangiopathic disease: there may be purpura or ecchymosis due to bleeding. Systolic BP >210 mmHg and diastolic BP >130 mmHg indicate malignant hypertension; associated signs may include new murmurs, third heart sound on auscultation of the heart, jugular venous distension, rales or lower-extremity oedema, oliguria or polyuria, focal neurological signs, and hypertensive retinopathy. Cutaneous reddish-brown or violaceous vascular lesions may indicate haemangioma.[57]
Splenomegaly is seen in hereditary spherocytosis. Clinical features of underlying autoimmune diseases may be present. Lymphadenopathy may indicate infectious mononucleosis, leukaemia, lymphoma, or autoimmune disease.
Initial investigations
The FBC and peripheral blood smear should be examined for clues to the underlying cause. A thrombocytopenia with schistocytes strongly suggests a microangiopathic haemolytic anaemia. Spherocytes suggest autoimmune haemolytic anaemia or hereditary spherocytosis. Hereditary spherocytosis is also associated with increased mean corpuscular Hb. Sickling of RBCs is diagnostic of sickle cell anaemia.[105] Heinz bodies, eccentrocytes, or bite cells are seen in G6PD deficiency.
If haemolytic anaemia is suspected, serum lactate dehydrogenase, haptoglobin, and bilirubin should be measured. Elevated lactate dehydrogenase and bilirubin levels with a decreased haptoglobin are strongly suggestive of haemolytic anaemia. Clinical jaundice is seen once bilirubin levels rise above 34.2 to 68.4 mmol/L (2-4 mg/dL).
Tests to consider in suspected microangiopathic haemolytic anaemias
Serum creatinine: may be elevated in patients with haemolytic uraemic syndrome or malignant hypertension.
Urine dipstick: may show haematuria and/or proteinuria in haemolytic uraemic syndrome
Stool tests: culture, polymerase chain reaction for enterohaemorrhagic E coli genes, or enzyme-linked immunosorbent assay for Shiga toxin in haemolytic uraemic syndrome.[106]
Prothrombin time and activated partial prothrombin time, which are prolonged in disseminated intravascular coagulation (DIC) but normal in other microangiopathic haemolytic anaemias.
DIC panel shows elevated D-dimers and fibrin degradation products with low fibrinogen in patients with DIC.
X-rays and magnetic resonance imaging scanning of suspected regions reveal internal haemangiomas.
Tests to consider in other haemolytic anaemias
Direct antiglobulin (Coombs') test, which is positive in autoimmune haemolytic anaemia (AIHA). AIHA is associated with the presence of antiphospholipid antibodies in patients with systemic lupus erythematosus.[107][108][109]
Tests to identify hereditary causes. Sickle cell anaemia is diagnosed on FBC. Osmotic fragility test is positive in hereditary spherocytosis; cells lyse on exposure to hypo-osmotic solution. G6PD assays identify deficiencies of the enzyme.
Tests to identify infection. Monospot test or viral capsid antigen IgM is positive in infectious mononucleosis. Cytomegalovirus (CMV) IgM is positive in CMV infection. Double-sandwich IgM enzyme-linked immunosorbent assay or IgG avidity test is positive for IgM in acute toxoplasmosis. Splenic or bone marrow aspirate shows amastigotes of the parasite in leishmaniasis.
Blood lead levels, which are elevated in lead toxicity.
Macrocytic anaemia: megaloblastic
The main causes to consider are vitamin B12 or folate deficiency, or drugs that interfere with DNA synthesis. Autoimmune thyroid disease may coexist with pernicious anaemia and atrophic gastritis, which decrease B12 absorption. Therefore, screening for B12 deficiency when the aetiology of hypothyroidism is thought to be autoimmune is recommended.[110]
History
Poor intake due to malnutrition, alcohol misuse, or strict vegan or low-protein diets can produce deficiency of vitamin B12 and/or folate.
A history of coeliac disease, tropical sprue, Crohn's disease, previous gastric or intestinal surgery, or bacterial overgrowth may indicate malabsorption.
A swollen, red, painful tongue; angular stomatitis; patchy hyperpigmentation of the skin and mucous membranes; and a persistent mild pyrexia are symptoms of folate deficiency.
Drug history: known causative medications include purine analogues, pyrimidine analogues, reductase inhibitors, methotrexate, trimethoprim, anticonvulsants, oral contraceptives, cycloserine, p-aminosalicylic acid, metformin, colchicine, neomycin, and biguanides. Hydroxyurea, in particular, is known to cause oval macrocytosis with MCV >110 femtolitres (fL).
Initial investigations
When investigating macrocytic anaemia, determining the vitamin B12 levels is more relevant and cost-efficient than determining folate levels.Serum vitamin B12 levels are decreased and serum methylmalonic acid levels are elevated in vitamin B12 deficiency.[111] The latter is more sensitive and should be used to definitively exclude vitamin B12 deficiency. An MCV of >115 fL is typically seen in nutritional deficiency.
Serum folate levels are low in folate deficiency. If folate levels are low, serum vitamin B12 and methylmalonic acid levels should be measured to exclude concurrent vitamin B12 deficiency before folate levels are corrected. Normal serum homocysteine levels make folate deficiency unlikely. Serum folate is rapidly affected by diet and short term supplementation; RBC folate represents longer term body stores. In most cases, however, serum folate is preferred, and correlates well with RBC folate.
Anti-intrinsic factor and parietal cell antibodies are positive in pernicious anaemia.
All adult patients with chronic gastrointestinal symptoms should be considered for coeliac disease screening.[112]
Macrocytic anaemia: non-megaloblastic
Potential diagnoses
Causes to consider include alcohol misuse, myelodysplastic syndrome, chronic liver disease, and congenital bone marrow failure syndromes.
History
High alcohol intake indicates alcohol-induced anaemia, which usually persists for months after total abstinence. A history of chronic liver disease indicates liver disease-induced anaemia.
History of prior exposure to petroleum distillates (especially benzene), chemotherapy, or radiotherapy should prompt suspicion of myelodysplastic syndrome.
A history of fever, chills, fatigue, weakness, recurrent infection, anorexia, night sweats, shortness of breath, and easy bruising should prompt suspicion of myelodysplastic syndrome.
Recurrent infections in an infant should prompt suspicion of congenital bone marrow failure syndromes.
Examination
May reveal stigmata of chronic alcoholism or chronic liver disease.
Pallor, petechiae and purpura may be present in myelodysplastic syndrome.
Dyskeratosis congenita is characterised by the triad of abnormal nails, reticulated skin rash, and leukoplakia.
Investigations
FBC shows associated neutropenia and thrombocytopenia with macro-ovalocytes in myelodysplastic syndrome.
Bone marrow aspiration and biopsy shows myeloblasts with immature precursors in myelodysplastic syndrome. Diagnostic features of congenital bone marrow failure syndromes are also identified.
Cytogenetics reveal chromosomal translocations in myelodysplastic syndrome.
Additional tests for congenital bone marrow syndromes: diepoxybutane or mitomycin-c fragility test is positive in Fanconi anaemia. Genetic testing reveals underlying mutations.
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