Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.

BMJ case reports - 14 Jun 2018

Moulin Virginie, Grandoni Francesco, Castioni Julien, Lu Henri

Abstract excerpt

Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the SLC19A2 gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the case of a 25-year-old woman known for TRMA, who presented with pancytopenia (haemoglobin 7.6 g/dL, leucocytes...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Administration, Oral
Share to Anemia, Megaloblastic
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Pancytopenia

Share to Rare Diseases

Share to Thiamine

Share to Vitamin B Complex

Source

Open in PubMed Open full text

Identifiers

PMID: 29903777
DOI: 10.1136/bcr-2018-225035
PMCID: PMC6011530

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia.PMID 29903777Read ↗

[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].Semantic proximity Read ↗

Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.Semantic proximity Read ↗

Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.Semantic proximity Read ↗

Thiamine transporter mutation: an example of monogenic diabetes mellitusSemantic proximity Read ↗

Thiamine-responsive megaloblastic anaemia.Semantic proximity Read ↗

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.Semantic proximity Read ↗

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.Semantic proximity Read ↗

A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.Semantic proximity Read ↗

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.Semantic proximity Read ↗

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.Semantic proximity Read ↗

Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report.Semantic proximity Read ↗

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.