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How people in Benin assess a couple's risk of having a baby with sickle cell disease.

ABSTRACT: Sickle cell disease (SCD) is a genetic disease resulting from the inheritance from both parents of a mutant hemoglobin gene. Its occurrence can, at best, be prevented, and its daily life consequences can, at least, be limited. As the mutant gene is recessive, it should be useful for people living in countries where SCD is endemic to know their own genetic status and that of their actual or potential partner in order to assess the risk of having a baby with SCD. The present study aimed at examining how a convenience sample of 128 lay people and nine physicians in Benin judge the likelihood that a newborn will suffer from SCD as a function of the genetic status of the baby's mother and father. As expected, several qualitatively different clusters of participants were found. A minority (29 %) made judgments that were largely consistent with the correct rule for determining the likelihood of disease. A larger group (37 %) expressed, however, the view that (a) to know a child's likelihood of suffering from SCD, information is needed about the genetic statuses of both parents and (b) this likelihood depends additively on these genetic statuses. Finally, another group (34 %) thought that, if one parent is suffering from SCD or is a carrier of a sickle gene, the likelihood that the child will have SCD is high, irrespective of the other parent's status. Thus, even among a relatively well-educated group of people in Benin, only a minority used the correct judgment rule when assessing the risk of SCD. Work needs to be done to educate the population regarding the proper way to combine information.

SUBMITTER: Zounon O

PROVIDER: S-EPMC4286567 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature

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How people in Benin assess a couple's risk of having a baby with sickle cell disease.

Zounon Ornheilia O Sorum Paul Clay PC Mullet Etienne E

Journal of community genetics 20141125 1

Sickle cell disease (SCD) is a genetic disease resulting from the inheritance from both parents of a mutant hemoglobin gene. Its occurrence can, at best, be prevented, and its daily life consequences can, at least, be limited. As the mutant gene is recessive, it should be useful for people living in countries where SCD is endemic to know their own genetic status and that of their actual or potential partner in order to assess the risk of having a baby with SCD. The present study aimed at examini ...[more]

PMID: 25420557

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Project description:BackgroundSickle cell disease is a genetic disorder involving a defect in the red blood cells due to its sickled hemoglobin. The main therapeutic interventions include preventive and supportive measures. Hematopoietic stem cell transplantations are carried out with the aim of replacing the defective cells and their progenitors (hematopoietic (i.e. blood forming) stem cells) in order to correct the disorder. This is an update of a previously published review.ObjectivesTo determine whether stem cell transplantation can improve survival and prevent symptoms and complications associated with sickle cell disease. To examine the risks of stem cell transplantation against the potential long-term gain for people with sickle cell disease.Search methodsWe searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Group's Haemoglobinopathies Trials Register complied from electronic searches of the Cochrane Central Register of Controlled Trials (CENTRAL) (updated each new issue of the Cochrane Library) and quarterly searches of MEDLINE. We also searched trial registries for ongoing trials up to April 2020. Date of the most recent search of the Group's Haemoglobinopathies Trials Register: 09 December 2019.Selection criteriaRandomized controlled and quasi-randomized trials that compared any method of stem cell transplantation with either each other or with any of the preventive or supportive interventions (e.g. periodic blood transfusion, use of hydroxyurea, antibiotics, pain relievers, supplemental oxygen) in people with sickle cell disease irrespective of the type of sickle cell disease, gender and setting.Data collection and analysisNo trials were eligible for inclusion in the review.Main resultsWe identified 12 potentially-eligible trials by the searches; we excluded 11 of these and the remaining trial is an ongoing trial that may be eligible for inclusion in a future version of the review.Authors' conclusionsReports on the use of hematopoietic stem cell transplantation improving survival and preventing symptoms and complications associated with sickle cell disease are currently limited to observational and other less robust studies. We did not find any eligible randomized controlled trials assessing the benefit or risk of hematopoietic stem cell transplantations. However, there is an ongoing quasi-randomized trial comparing hematopoietic stem cell transplantation with standard care, Thus, this systematic review identifies the need for a multicentre randomized controlled trial assessing the benefits and possible risks of hematopoietic stem cell transplantations comparing sickle status and severity of disease in people with sickle cell disease.

Project description:BackgroundThe frequency of skin ulceration makes an important contributor to the morbidity burden in people with sickle cell disease. Many treatment options are available to the healthcare professional, although it is uncertain which treatments have been assessed for effectiveness in people with sickle cell disease. This is an update of a previously published Cochrane Review.ObjectivesTo assess the clinical effectiveness and harms of interventions for treating leg ulcers in people with sickle cell disease.Search methodsWe searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register. We searched LILACS (1982 to January 2020), ISI Web of Knowledge (1985 to January 2020), and the Clinical Trials Search Portal of the World Health Organization (January 2020). We checked the reference lists of all the trials identified. We also contacted those groups or individuals who may have completed relevant randomised trials in this area. Date of the last search of the Cochrane Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register: 13 January 2020; date of the last search of the Cochrane Wounds Group Trials Register: 17 February 2017.Selection criteriaRandomised controlled trials of interventions for treating leg ulcers in people with sickle cell disease compared to placebo or an alternative treatment.Data collection and analysisTwo authors independently selected studies for inclusion. All three authors independently assessed the risk of bias of the included studies and extracted data. We used GRADE to assess the quality of the evidence.Main resultsSix studies met the inclusion criteria (198 participants with 250 ulcers). Each trial investigated a different intervention and within this review we have grouped these as systemic pharmaceutical interventions (L-cartinine, arginine butyrate, isoxsuprine) and topical pharmaceutical interventions (Solcoseryl® cream, arginine-glycine-aspartic acid (RGD) peptide dressing and topical antibiotics). No trials on non-pharmaceutical interventions were included in the review. All trials had an overall unclear or high risk of bias, and drug companies sponsored four of them. We were unable to pool findings due to the heterogeneity in outcome definitions, and inconsistency between the units of randomisation and analysis. Three interventions reported on the change in ulcer size (arginine butyrate, RGD peptide, L-cartinine). Of these, only arginine butyrate showed a reduction of ulcer size compared with a control group, mean reduction -5.10 cm² (95% CI -9.65 to -0.55), but we are uncertain whether this reduces ulcer size compared to standard care alone as the certainty of the evidence has been assessed as very low. Three trials reported on complete leg ulcer closure (isoxsuprine, arginine butyrate, RGD peptide matrix; very low quality of evidence). None reported a clinical benefit. No trial reported on: the time to complete ulcer healing; ulcer-free survival following treatment for sickle cell leg ulcers; quality of life measures; incidence of amputation or harms.Authors' conclusionsGiven the very low quality of the evidence identified in this updated Cochrane Review we are uncertain whether any of the assessed pharmaceutical interventions reduce ulcer size or result in leg ulcer closure in treated participants compared to controls. However, this intervention was assessed as having a high risk of bias due to inadequacies in the single trial report. Other included studies were also assessed as having an unclear or high risk of bias. The harm profile of the all interventions remains inconclusive.

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How people in Benin assess a couple's risk of having a baby with sickle cell disease.

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How people in Benin assess a couple's risk of having a baby with sickle cell disease.

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