Evidence map›Paper›PMID 26044545›Full record

ArticlePublic health genomics2015

Perspectives in Genetics and Sickle Cell Disease Prevention in Africa: Beyond the Preliminary Data from Cameroon.

Ambroise Wonkam, Valentina Josiane Ngo Bitoungui, Jeanne Ngogang

Open access · bronzeAbstract read
In one paragraph

Article in Public health genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

14 citing papers in PubMed, 14 citations in OpenAlex.

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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 at 2 institutions in 2 countries.

Ambroise WonkamDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, Republic of South Africa.
Valentina Josiane Ngo Bitoungui
Jeanne Ngogang
Université de Yaoundé I · CMUniversity of Cape Town · ZA

Funding

Sickle Africa Data Coordinating CenterU24HL135600 · NHLBI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA, WONKAM, AMBROISE · 2017 to 2025
$8.6M
Exploring Perspectives on Genomics and Sickle Cell Public Health InterventionsU01HG007459 · NHGRI · UNIVERSITY OF CAPE TOWN · PI WONKAM, AMBROISE · 2013 to 2016
$622k
NHGRI NIH HHS 1U01HG007459-01NHGRI NIH HHS U01 HG007459NHLBI NIH HHS U24 HL135600
6 · The paper itself

Abstract

Management of sickle cell disease (SCD) in Africa needs to be accompanied by various preventive strategies, including early detection via prenatal genetic diagnosis (PND). Contrary to Cameroonian doctors who considered termination of an affected pregnancy (TAP) for SCD in 36.1%, the majority of parents (62.5%) with affected children accepted TAP in principle. In practice, most women opted for TAP (90%), justified by a huge psycho-social burden. The ethical and legal challenges of PND prompted the need to explore the use of genetics for secondary prevention of SCD. In 610 Cameroonian SCD patients, the genomic variations in two principal foetal haemoglobin-promoting loci were significantly associated with foetal haemoglobin levels. In addition, the co-inheritance of a 3.7-kb α-globin gene deletion and SCD was associated with a late disease onset and possibly improved survival: there was a much higher allele frequency of the 3.7-kb α-globin gene deletion in SCD patients (∼ 40%) than in haemoglobin AA controls (∼ 10%). The data indicate the urgent need to develop and implement policy actions in sub-Saharan Africa on at least four levels: (1) the implementation of SCD screening practices and early neonatal follow-up; (2) the development and incorporating of socio-economic support to alleviate the burden of SCD on affected families; (3) the exploration of the appropriateness of the medical abortion laws for SCD, and (4) the development of national plans for genetic medicine, including research on genomic variants that affect the phenotypes of SCD, in order to potentially use them for anticipatory guidance.

Indexed as

Genetic TestingPrenatal DiagnosisAbortion, Therapeuticalpha-GlobinsAnemia, Sickle CellCameroonDisease ManagementFemaleFetal HemoglobinGene DeletionGene FrequencyGenetic CounselingGenetics, MedicalGenetic VariationGenome, HumanGenomicsalpha-GlobinsFetal HemoglobinHemoglobin Ahemoglobin AA

Identifiers

PMID26044545
PMCPMC4514541
OpenAlexW1518327928

What OpenQuestion holds

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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.