Coinheritance of sickle cell anemia and α‐thalassemia delays disease onset and could improve survival in cameroonian's patients (Sub‐Saharan Africa)

Wonkam, Ambroise; Rumaney, Maryam Bibi; Bitoungui, Valentina Josiane Ngo; Vorster, Alvera; Ramesar, Raj; Ngogang, Jeanne

doi:10.1002/ajh.23711

Cited by 17 publications

(20 citation statements)

References 8 publications

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“…Equally, the prevalence of the 3.7 kb α-globin gene deletion increased with age in Cuban SCA patients [38]. In addition to the higher proportion of 3.7 kb α-globin gene deletions among patients, we reported that the co-inheritance of 3.7 kb α-globin gene deletions delayed the onset of clinical manifestations [15]. These data, in addition to previous report, are implying that co-inheritance of α-thalassemia could be associated with longer survival of SCA patients.…”

Section: Discussionmentioning

confidence: 90%

The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival

et al. 2014

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BackgroundCo-inheritance of α-thalassemia was reported to be associated with a delayed age of disease onset among Cameroonian Sickle Cell Anemia (SCA) patients. The present study aimed to explore the correlation between α-thalassemia, hematological indices, and clinical events in these patients.Methods and FindingsWe studied 161 Cameroonian SCA patients and 103 controls (59.1% HbAA) with median ages of 17.5 and 23 years. RFLP-PCR was used to confirm SCA genotype and to describe haplotypes in the HBB-like genes cluster. Multiplex Gap-PCR was performed to investigate the 3.7 kb α-globin gene deletions. SNaPshot PCR, capillary electrophoresis and cycle sequencing were used for the genotyping of 10 SNPs in BCL11A, HMIP1/2, OR51B5/6 and HBG loci, known to influence HbF levels. Generalised linear regression models adjusted for age, sex and SNPs genotypes was used to investigate effects of α-thalassemia on clinical and hematological indices. The median rate of vaso-occlusive painful crisis and hospitalisations was two and one per year, respectively. Stroke was reported in eight cases (7.4%). Benin haplotype was the most prevalent (66.3%; n = 208 chromosomes). Among patients, 37.3% (n = 60) had at least one 3.7 kb deletion, compared to 10.9% (n = 6) among HbAA controls (p<0.001). Among patients, the median RBC count increased with the number of 3.7 kb deletions [2.6, 3.0 and 3.4 million/dl, with no, one and two deletions (p = 0.01)]. The median MCV decreased with the number of 3.7 kb deletion [86, 80, and 68fl, with no, one and two deletions (p<0.0001)], as well as median WBC counts [13.2, 10.5 and 9.8×109/L (p<0.0001. The co-inheritance of α-thalassemia was associated with lower consultations rate (p = 0.038).ConclusionThe co-inheritance of α-thalassemia and SCA is associated with improved hematological indices, and lower consultations rate in this group of patients. This could possibly improve their survival and explain the higher proportion of α-thalassemia among patients than controls.

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Section: Discussionmentioning

confidence: 90%

The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival

et al. 2014

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“…In Cameroon, the co-inheritance of 3·7 α-globin gene deletion and SCD was associated with late SCD onset and possibly improved patients’ survival, that could explained the much higher allele frequency of 3·7kb α-globin gene deletion among SCD patients (~40%) than HbAA controls (~10%) [25]. Co-inheritance of SCD and α-thalassemia was associated with lower consultation rate among Cameroonian (p = 0·038), implying a lesser severity of disease, that could be attributed to its association with improved haematological indices [26].…”

Section: Genomics and Scd Secondary Prevention: Preliminary Data And mentioning

confidence: 99%

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

Wonkam

Bitoungui

Ngogang

2015

Public Health Genomics

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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.

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“…The high prevalence of sickle cell disease in Africa would facilitate large-scale cohort studies, leading to new evidence and interventions. Such cohort studies are emerging in some parts of the continent, empowering African scientists to investigate the complexity of a monogenic condition with a heterogeneous expression of disease severity 8–10. For sickle cell disease research to be successful, however, an integrated, multidisciplinary approach is required that encompasses clinical, public health, environmental, social, population-based, and basic science disciplines.…”

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Sickle cell disease: tipping the balance of genomic research to catalyse discoveries in Africa

et al. 2017

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Coinheritance of sickle cell anemia and α‐thalassemia delays disease onset and could improve survival in cameroonian's patients (Sub‐Saharan Africa)

Cited by 17 publications

References 8 publications

The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival

The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival

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

Sickle cell disease: tipping the balance of genomic research to catalyse discoveries in Africa

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