Evidence map›Paper›PMID 36406831›Full record

ArticleJournal of hematology2022

Hemoglobin Alpha Chain Variant Zara Associated With Familial Asymptomatic Hypoxemia.

Anthony Pasquarella, Erin Miller, Edward C C Wong, Masamichi Ito, Marc J Braunstein

Open access · greenAbstract readCase Reports
In one paragraph

Article in Journal of hematology, 2022. 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
0.3field-weighted citation impact, top 39% 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, 2 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

5 authors at 1 institution in 1 country.

Anthony PasquarellaDivision of Oncology-Hematology, Department of Medicine, NYU Long Island School of Medicine, NYU Perlmutter Cancer Center, Mineola, NY, USA.
Erin MillerDivision of Oncology-Hematology, Department of Medicine, NYU Long Island School of Medicine, NYU Perlmutter Cancer Center, Mineola, NY, USA.
Edward C C WongQuest Diagnostics, Secaucus, NJ, USA.
Masamichi ItoQuest Diagnostics, Secaucus, NJ, USA.
Marc J BraunsteinDivision of Oncology-Hematology, Department of Medicine, NYU Long Island School of Medicine, NYU Perlmutter Cancer Center, Mineola, NY, USA.
Quest Diagnostics (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Numerous hemoglobin (Hb) gene mutations have been identified, leading to a spectrum of phenotypes ranging from asymptomatic carrier states to complicated hemolytic anemias. We report a rare case of asymptomatic hypoxemia in a father and his teenage daughter both of whom were found to be carriers of Hb gene variant Zara. Workup for alternative cardiovascular causes of hypoxemia was unremarkable. Further sequencing of the alpha globin locus showed both individuals to be heterozygous for the Hb Zara c.274C>A (p.Leu92Ile) variant of unknown significance in the alpha2-globin gene. This is the first documented association of this Hb variant with familial asymptomatic hypoxemia, highlighting the importance of evaluating for hemoglobinopathies in patients with reduced oxygen saturation.

Indexed as

HemoglobinopathyHemoglobin ZaraHypoxemia

Identifiers

PMID36406831
PMCPMC9635801
OpenAlexW4307883765

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.