Evidence map›Paper›PMID 23378598›Full record

ReviewCold Spring Harbor perspectives in medicine2013

The prevention of thalassemia.

Antonio Cao, Yuet Wai Kan

Abstract readReview
In one paragraph

Review in Cold Spring Harbor perspectives in medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
112citing papers in PubMed, 3 pooled it
–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

112 citing papers in PubMed, 3 syntheses or guidelines pooled it.

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52 more citing papers are in PubMed but not listed here.

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

2 authors.

Antonio CaoDipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Via Jenner snc 09121 Cagliari, Sardinia, Italy.
Yuet Wai Kan

Funding

Reprogramming iPS Cells with Exogenous and Endogenous Transcription Factor GenesP01DK088760 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GRUENERT, DIETER C · 2011 to 2015
$6.5M
NIDDK NIH HHS P01 DK088760
6 · The paper itself

Abstract

The thalassemias are among the most common inherited diseases worldwide, affecting individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. As the diseases require long-term care, prevention of the homozygous state constitutes a major armament in the management. This article discusses the major prevention programs that are set up in many countries in Europe, Asia, and Australia, often drawing from the experience in Sardinia. These comprehensive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Variability of clinical severity can be attributable to interactions with α-thalassemia and mutations that increase fetal productions. Special methods that are currently quite expensive and not widely applicable are preimplantation and preconception diagnosis. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal diagnosis that is noninvasive for the fetus.

Indexed as

Cost of IllnessFemaleForecastingGenetic CounselingGenetic TestingGlobal HealthHealth EducationHealth PromotionHumansMolecular Diagnostic TechniquesPhenotypePreconception CarePregnancyPrenatal DiagnosisPrognosisThalassemia

Identifiers

PMID23378598
PMCPMC3552345

What OpenQuestion holds

Textmetadata
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.