Evidence map›Paper›PMID 38653961›Full record

ArticleHuman genome variation2024

Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis.

Nur Aisyah Aziz, Nurul Hidayah Musa, Melina Mathews, Komalah Thevii Rajenderan, Faidatul Syazlin Abdul Hamid, Syahzuwan Hassan, Syahira Lazira Omar, Wan Nurul Afiqha Binti Wan Yusoff, Melanie Ling Binti Mohd Din, Nurul Amira Binti Jamaludin and 3 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

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

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 91% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 3 institutions in 1 country.

Nur Aisyah AzizHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia. nuraisyah.a@moh.gov.my.ORCID http://orcid.org/0000-0002-4527-0704
Nurul Hidayah MusaHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Melina MathewsSimee Health Clinic, Ipoh, Perak, Malaysia.
Komalah Thevii RajenderanDepartment of Pathology, Hospital Raja Permaisuri Bainun, Ipoh, Perak, Malaysia.
Faidatul Syazlin Abdul HamidHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Syahzuwan HassanHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Syahira Lazira OmarHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Wan Nurul Afiqha Binti Wan YusoffHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Melanie Ling Binti Mohd DinHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Nurul Amira Binti JamaludinHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Wan Rohani Wan TaibFaculty of Health Science, University Sultan Zainal Abidin, Kuala Terengganu, Terengganu, Malaysia.
Ezalia EsaHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Norafiza Mohd YasinHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia.
Ministry of Health · MYInstitut Penyelidikan Veterinar · MYSultan Zainal Abidin University · MY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hemoglobin (Hb) Vancleave (NM_000518.5:c.431 A > T; dbSNP: rs33918338) is an extremely rare structural hemoglobin variant worldwide, and studies are limited. This report describes the case of a 16-year-old male patient who presented with secondary erythrocytosis. The diagnosis of Hb Vancleave, in combination with codon 41/42 (-TTCT) (NM_000518.5:c.126_129del; dbSNP: rs80356821), was confirmed by direct sequencing. This report highlights the importance of sequencing in the differential diagnosis of beta-thalassemia syndrome in Malaysia.

Identifiers

PMID38653961
PMCPMC11039651
OpenAlexW4395049119

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Registered trials

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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.