Evidence map›Paper›PMID 40626503›Full record

ReviewCurrent opinion in hematology2025

Advances on the genetic basis of red cell membrane disorders.

Mary Risinger, Wenying Zhang, Theodosia A Kalfa

Abstract readReview
In one paragraph

Review in Current opinion in hematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Molecular surprises in evaluations of red cell disorders.Hematology. American Society of Hematology. Education Program · 2025
    Review
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

3 authors.

Mary RisingerDivision of Hematology.
Wenying ZhangDivision of Human Genetics, Cincinnati Children's Hospital Medical Center.
Theodosia A KalfaDivision of Hematology.

Funding

LCenter for Clinical and Translational Science and TrainingUL1TR001425 · NCATS · UNIVERSITY OF CINCINNATI · PI MEINZEN-DERR, JAREEN, STRAWN, JEFFREY ROBERT · 2015 to 2024
$37.5M
Xenotransplant and Genome Editing CoreU54DK126108 · NIDDK · CINCINNATI CHILDRENS HOSP MED CTR · PI Daniel Starczynowski, YI ZHENG · 2021 to 2026
$5.0M
The Role of Erythroblastic Islands in Anemia of InflammationR01HL152099 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI BLANC, LIONEL, KALFA, THEODOSIA ANASTASIOS · 2020 to 2023
$2.5M
NCATS NIH HHS UL1 TR001425NHLBI NIH HHS R01 HL152099NIDDK NIH HHS U54 DK126108
6 · The paper itself

Abstract

purpose of reviewThe development and widespread use of genetic testing for diagnosis of red blood cell (RBC) membrane disorders and other hereditary hemolytic anemias (HHA) have expanded our understanding of these diseases and revealed additional complexities. We describe here such complexities and make suggestions regarding genotypic/phenotypic evaluation with the goal of early diagnosis of patients with HHA before inappropriate treatment or complications occur. RECENT

findingsWidespread use of clinical genetic diagnosis in patients, for more than a decade now, has revealed the heterogeneity of RBC membranopathies, even when caused by different variants in the same gene, and sometimes due to the same genetic variant, likely because of genetic modifiers or mutations in other genes encoding for RBC membrane proteins, enzymes, or globins. Many under-recognized diseases are now more easily diagnosed. SUMMARY: Despite complexities in the genetic evaluation of RBC membranopathies, the future holds great promise for timely and accurate diagnosis. Correlation and documentation of genotypic and phenotypic data from affected individuals and family members will allow for improved detection and interpretation of genetic results. The use of such testing in newborns and children with HHA can optimize treatment decisions and explore possibilities for novel targeted or genetic therapies.

Indexed as

Anemia, Hemolytic, CongenitalErythrocyte MembraneGenetic TestingGenotypeHumansMembrane ProteinsMutationPhenotypeMembrane Proteinshereditary hemolytic anemiasmembranopathiesnext-generation sequencingred cell membrane disorders

Identifiers

PMID40626503
PMCPMC12240464

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.