Evidence map›Paper›PMID 38976007›Full record

ArticleAnnals of hematology2024

Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

Neelofar Iqbal, Marium Ali Meghani, Wajeeha Khalid, Ali Hussain Ansari, Muhammad Usman Hussain Ansari, Saqib Hussain Ansari

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In one paragraph

Article in Annals of hematology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Neelofar IqbalDow University of Health Sciences, Karachi, Pakistan. neelofar.iqbal.ni@gmail.com.ORCID https://orcid.org/0009-0000-0745-6332
Marium Ali MeghaniChildren's Hospital Karachi, Karachi, Pakistan.
Wajeeha KhalidUniversity of North Carolina, Durham, NC, USA.
Ali Hussain AnsariAga Khan University Hospital, Karachi, Pakistan.
Muhammad Usman Hussain AnsariAga Khan University Hospital, Karachi, Pakistan.
Saqib Hussain AnsariChildren's Hospital Karachi, Karachi, Pakistan.ORCID https://orcid.org/0000-0002-4209-6560

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVitamin B12 is primarily transported from plasma to cells by Transcobalamin. Deficiency of Transcobalamin is a rare autosomal recessive disorder that results in unavailability of cobalamin in cells and accumulation of homocysteine and methylmalonic acid. CASE REPORT: We report a case of a 2-year-old male child with persistent pancytopenia, recurrent infections, and megaloblastic anemia. Next-generation sequencing identified a novel variant in exon 8 of TCN2 gene. Substantial improvement has been observed following administration of high doses of parenteral methylcobalamin.

conclusionIn patients with unresolved pancytopenia and megaloblastic anemia, Transcobalamin deficiency should be investigated and treated promptly to prevent any irreversible and harmful outcome.

Indexed as

TranscobalaminsVitamin B 12Anemia, MegaloblasticChild, PreschoolExonsHumansMalePancytopeniaVitamin B 12 DeficiencyTCN2 protein, humanTranscobalaminsVitamin B 12Megaloblastic anemiaNext generation sequencingPancytopeniaTranscobalamin II deficiencyVitamin B12

Identifiers

PMID38976007

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.