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Paediatrics

Presentation: Child with anaemia

In a small proportion of children presenting with anaemia there may be an underlying genetic cause.

Example clinical scenario

A four-year-old girl who has recently moved to England from Nigeria presents to her GP with a history of becoming lethargic and short of breath. She has been having palpitations, and is pale and tachycardic on examination. A full blood count reveals that she is anaemic; therefore, the GP refers her to hospital for investigation.

When to consider genomic testing

The majority of cases of anaemia in childhood are secondary to dietary insufficiency (such as iron deficiency with microcytosis, or vitamin B12 or folic acid deficiency with macrocytosis). The other major causes are anaemias of chronic disease, anaemia of prematurity and iatrogenic anaemias, which occur due to interventions such as chemotherapy or radiotherapy. A subset of anaemias do occur as a result of genetic diseases, and these should be considered when the patient’s full blood count, blood film and family history suggest a underlying genetic cause for their anaemia.

What do you need to do?

  • In neonates, ensure an adequate day-five blood spot is taken.
  • If there are clinical suspicions of sickle cell anaemia or thalassaemia (for example, the patient was born in a country without neonatal screening), consider a blood film examination and referral to a paediatric haematologist.
  • If there are clinical suspicions of Fanconi anaemia (for example a patient presenting with anaemia, short stature, skin stigmata and skeletal anomalies), then see the resource Presentation: Clinical suspicion of Fanconi anaemia for further guidance on genetic testing.
  • Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet of all available tests.
  • To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
  • Decide which of the panels best suits the needs of your patient or family.
    • For haematological disorders, the following tests should be considered:
      • R92 Rare anaemia: The multiplex ligation-dependent probe amplification (MLPA) test will look for copy number variants (CNVs), and gene panel testing and whole exome sequencing (WES) will look for small variants and CNVs. This test may require discussion with a paediatric haematologist or clinical geneticist
      • R93 Sickle cell, thalassaemia and other haemoglobinopathies: The MLPA test will look for CNVs and gene panel testing will look for small variants.
      • R372 Newborn screening for sickle cell disease in a transfused baby: Targeted mutation testing, this will look for small variants.
    • If a child presents with anaemia and other congenital malformation or dysmorphisms, consider broader diagnostic testing:
      • R27 Paediatric disorders: consider with with R92 Rare anaemia added so that all the anaemia-related genes included in R92 are also analysed.
  • R27 is an amalgamation of over 10 panels of genes known to be associated with a broad range of paediatric developmental disorders. It may now be ordered directly by paediatricians, though a discussion with clinical genetics services may be beneficial.
  • For tests that do not include WGS, including R92, R93 and R372:
    • you can use your local Genomic Laboratory Hub (GLH) test order and consent (record of discussion) forms; and
    • parental samples may be needed for interpretation of the child’s (proband’s) result. Parental samples can be taken alongside that of the child, and their DNA stored, or can be requested at a later date if needed.
  • For tests that are undertaken using whole genome sequencing (WGS), including R27, you will need to:
    • complete an NHS GMS test order form with details of the affected individual (proband) and their parents where available, including details of the phenotype (using human phenotype ontology (HPO) terms) and the appropriate panel name(s) with associated R number (see How to complete a test order form for WGS for support in completing WGS-specific forms);
    • complete an NHS GMS RoD form for each person being tested – for example, if you are undertaking trio testing of an affected child and their parents, you will need three RoD forms (see How to complete a record of discussion form for support); and
    • submit parental samples alongside the child’s sample (this is trio testing) to aid interpretation, especially for the larger WGS panels (where this is not possible, for example because the child is in care or the parents are unavailable for testing, the child may be submitted as a singleton).
  • For both haemoglobinopathy and DNA-based tests an EDTA sample (typically a purple-topped tube) is required. Exceptions include karyotype testing and DNA repair defect testing (for chromosome breakage), which require lithium heparin (typically a green-topped tube). For more information, see Samples for genomic testing in rare disease.
  • If you are discussing genomics concepts with your patients, you may find it helpful to use the visual communication aids for genomics conversations.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

For patients

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  • Last reviewed: 27/02/2026
  • Next review due: 27/02/2028
  • Authors: Dr Hassan Shakeel
  • Reviewers: Dr Eleanor Hay, Dr Emile Hendriks, Dr Anne Kelly, Dr Melody Redman

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