The burden of sickle cell disease in Cape Town

Wonkam, Ambroise; Ponde, Chido; Nicholson, Nan; Fieggen, Karen; Ramesar, Raj; Davidson, Alan

doi:10.7196/samj.5886

Cited by 28 publications

(26 citation statements)

References 13 publications

(20 reference statements)

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“…This is likely due to the changing population demographics and immigration from Central African countries where the disease is most prevalent. 8 The global prevalence of SCD is predicted to increase, and, along with improved screening programmes, diagnostic and treatment modalities, more patients with SCD may require cardiac surgery in the future. 9…”

Section: Discussion Epidemiologymentioning

confidence: 99%

Paediatric cardiac anaesthesia in sickle cell disease: a case series

Rensburg

Thomas

2016

Southern African Journal of Anaesthesia and Analgesia

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Sickle cell disease (SCD) is the most common inherited haematological disorder, producing a mutation of the haemoglobin molecule known as haemoglobin S (HbS). The presence of HbS in the erythrocyte makes it prone to sickling -a process that may lead to vaso-occlusive injury, haemolysis and a hypercoagulable state. Sickling is precipitated by dehydration, hypoxia, hypothermia, acidosis and low flow situations. Over time, multi-organ damage develops with significant morbidity and mortality. Paediatric patients with SCD and congenital heart defects may require anaesthesia for corrective cardiac surgery on cardiopulmonary bypass (CPB). During the perioperative period these high-risk patients may suffer significant complications when exposed to the conditions that favour erythrocyte sickling. This case series details experience of four paediatric patients with SCD who underwent corrective cardiac surgery at Red Cross War Memorial Children's Hospital. The pathophysiology is discussed and the perioperative management of transfusion, cardiopulmonary bypass and temperature regulation is highlighted.

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Section: Discussion Epidemiologymentioning

confidence: 99%

Paediatric cardiac anaesthesia in sickle cell disease: a case series

Rensburg

Thomas

2016

Southern African Journal of Anaesthesia and Analgesia

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“…[27] This was also the result of migration from SSA countries where SCD is most prevalent. Related to this was a specific administrative difficulty in taking care of some patients who lack the up-to-date and correct paperwork for immigrants and asylum seekers.…”

Section: Discussionmentioning

confidence: 99%

“…[25][26] However, this is changing with the socioeconomically motivated influx of immigrants from other African countries, especially those within the equatorial malaria-endemic belt, resulting in a 300 -400% increase in new cases of SCD over the past 10 years at Red Cross War Memorial Children's Hospital (RCWMCH) in Cape Town, SA. [27] The existence of similar trends in adult SCD patient services has not been investigated. Following our previous report at RCWMCH, we report in the present study the trend of new cases of adolescent and adult SCD over the past 20 years, having studied the clinical, haematological and genetic profiles of a cohort of 34 adolescent and adult SCD patients at the Haematology Unit at Groote Schuur Hospital (GSH), Cape Town.…”

Section: Researchmentioning

confidence: 99%

“…The results of this study indicate a similar trend of a rapid increase in the number of cases of SCD that was previously reported at RCWMCH in Cape Town. [27] This was also the result of migration from SSA countries where SCD is most prevalent. Related to this was a specific administrative difficulty in taking care of some patients who lack the up-to-date and correct paperwork for immigrants and asylum seekers.…”

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confidence: 99%

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Burden, genotype and phenotype profiles of adult patients with sickle cell disease in Cape Town, South Africa

et al. 2017

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Background. An exponential increase in the number of sickle cell disease (SCD) patients in paediatric services in Cape Town, South Africa, has been reported. The trend in adult/adolescent services has not been investigated. Objectives. To evaluate epidemiological trends of SCD and the profile of patients affected by SCD attending the Haematology Clinic at Groote Schuur Hospital (GSH), Cape Town. Methods. (i)A retrospective review of the number of SCD patients over the past 20 years; (ii) a cross-sectional analysis of clinical and haematological characteristics of SCD patients; and (iii) molecular analysis of the haemoglobin S mutation, the haplotype in the β-globinlike genes cluster, the 3.7 kb α-thalassaemia gene deletion and 19 selected single-nucleotide polymorphisms (SNPs) associated with fetal haemoglobin (HbF) levels. Results. From 1995 to 2016, 81 adolescent/adult patients with SCD were registered, mostly originating from other African countries (n=61, 75.3%). There was an increase of over 200% in new cases (n=47) during the last quarter of the two decades investigated. Data from 34 of 58 regular attendees (58.6%) were analysed. The mean age of the patients was 26.1 years (standard deviation (SD) 9.8), and 70.6% were male. With the exception of four patients with sickle/β-thalassaemia, all the patients had SCD (haemoglobin SS). The co-inheritance of a single 3.7 kb α-globin deletion was found in 42.3% of cases (n=11). The Bantu haplotype was the most observed (65.4% of chromosomes). Most HbF-promoting SNPs were not associated with variable levels of haematological indices. Conclusions.There is an increasing burden of adult SCD patients at GSH. National health and academic institutions need to adapt policies and healthcare professional training accordingly. S Afr Med RESEARCH Methods Ethical approvalThe study was performed in accordance with the Declaration of Helsinki and with the approval of the Faculty of Health Sciences Human Research Ethics Committee, University of Cape Town (HREC ref. no. 132/2010). Informed and written consent was obtained from adult participants (≥18 years), and for one patient aged 15 years informed consent was obtained from the guardian with assent from the participant. PatientsThe Haematology Clinic runs weekly every Wednesday. Most patients are seen at least once a month, and clinically stable patients every 3 months, with the exception of crisis-related hospitalisation.A retrospective review of the number of SCD patients attending the clinic over the past 20 years and a cross-sectional analysis of patients who regularly attend the clinic were performed. Clinical events and haematological indices were retrospectively collected from hospital records. The haematological measures were those reported at the first visit to the hospital. Molecular methods DNA extractionDNA was isolated from the peripheral blood using the AllPrep DNA/RNA/miRNA universal kit (Qiagen, USA) according to the manufacturer's instructions. GenotypingHbS mutation and β-globin haplotypes Polymerase chain reac...

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“…It is estimated that 305,800 babies are born each year with SCD worldwide with nearly 75% of the births occurring in sub-Saharan Africa (SSA) (Piel et al, 2013). However, as a result of migration, there is a reported increasing burden of SCD in other countries where it was not initially prevalent, such as South Africa (Wonkam et al, 2012), Ireland (Gibbons et al, 2015), Italy (Colombatti et al, 2013), Germany (Kunz et al, 2015;Zur, 2016), England (Pizzo et al, 2015), and France (Dzierzynski et al, 2016), with, for example, 1300-2600 affected newborns annually in France. SCD is now an accepted worldwide health problem and comparable with other major global noncommunicable diseases such as diabetes and hypertension (Weatherall and Clegg, 2008).…”

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confidence: 99%

An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine

Mnika

Pule

Dandara

et al. 2016

OMICS: A Journal of Integrative Biology

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Sickle cell disease (SCD) is a blood disease caused by a single nucleotide substitution (T > A) in the beta globin gene on chromosome 11. The single point mutation (Glu6Val) promotes polymerization of hemoglobin S (HbS) and causes sickling of erythrocytes. Vaso-occlusive painful crises are associated with recurrent and long-term use of analgesics/opioids and hydroxyurea (HU) by people living with SCD. The present analysis offers a stateof-the-art expert review of the effectiveness of pharmacogenomics/genetics of pain management in SCD, with specific focus on HU and opioids. The literature search used the following keywords: SCD, pharmacogenomics, pharmacogenetics, pain, antalgics, opioids, morphine, and HU. The literature was scanned until March 2016, with specific inclusion of targeted landmark and background articles on SCD. Surprisingly, our review identified only a limited number of studies that addressed the genetic/genomic basis of variable responses to pain (e.g., variants in OPRM1, HMOX-1, GCH1, VEGFA COMT genes), and pharmacogenomics of antalgics and opioids (e.g., variants in OPRM1, STAT6, ABCB1, and COMT genes) in SCD. There has been greater progress made toward identifying the key genomic variants, mainly in BCL11A, HBS1L-MYB, or SAR1, which contribute to response to HU treatment. However, the complete picture on pharmacogenomic determinants of the above therapeutic phenotypes remains elusive. Strikingly, no study has been conducted in sub-Saharan Africa where majority of the patients with SCD live. This alerts the broader global life sciences community toward the existing disparities in optimal and ethical targeting of research and innovation investments for SCD specifically and precision medicine and pharmacology research broadly.

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The burden of sickle cell disease in Cape Town

Cited by 28 publications

References 13 publications

Paediatric cardiac anaesthesia in sickle cell disease: a case series

Paediatric cardiac anaesthesia in sickle cell disease: a case series

Burden, genotype and phenotype profiles of adult patients with sickle cell disease in Cape Town, South Africa

An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine

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