Evidence map›Paper›PMID 38990295›Full record

ArticleAnnals of hematology2024

De-novo ATR-16 syndrome associated with inherited hemoglobin Evanston causing HbH phenotype: a rare occurrence.

Ekta Jajodia, Hemant Menghani, Neeraj Arora, Ankit Jitani

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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.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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.

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

4 authors.

Ekta JajodiaMolecular Genetics, Unipath Specialty Laboratory, Ahmedabad, Gujarat, India.
Hemant MenghaniHematology and Bone Marrow Transplant, Marengo CIMS Hospital, Ahmedabad, Gujarat, India.
Neeraj AroraMolecular Genetics, Unipath Specialty Laboratory, Ahmedabad, Gujarat, India.
Ankit JitaniHematology and Bone Marrow Transplant, Marengo CIMS Hospital, Ahmedabad, Gujarat, India. ankitjitani@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Abnormality of three α-globin genes, either deletion or point mutation results in symptomatic Hemoglobin H (HbH) phenotype. Most of such cases of α-globin defects are inherited from the parents, de-novo cases are exceedingly rare. Herein, a case of HbH is reported where the proband inherited one α-globin gene with a point mutation (α

Indexed as

alpha-ThalassemiaChromosomes, Human, Pair 16Phenotypealpha-GlobinsChromosome DeletionFemaleHemoglobin HHemoglobins, AbnormalHumansIntellectual DisabilityMalePoint Mutationalpha-GlobinsHemoglobin HHemoglobins, AbnormalAlpha thalassemiaATR-16 syndromeDe-novo thalassemiaHb evanstonHbH disease

Identifiers

PMID38990295

What OpenQuestion holds

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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.