Association between biological markers of sickle cell disease and cognitive functioning amongst Cameroonian children

Ruffieux, Nicolas; Njamnshi, Alfred K.; Wonkam, Ambroise; Hauert, Claude-Alain; Chanal, Julien; Verdon, Vincent; Fonsah, Julius Y.; Eta, Sabine; Doh, Roland F.; Ngamaleu, R.N.; Kengne, A.-M.; Fossati, Caroline; Sztajzel, Roman

doi:10.1080/09297049.2011.640932

Cited by 63 publications

(98 citation statements)

References 40 publications

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“…Poverty in Cameroon affects more than 50% of the rural population and up to 30% of the urban population [7], contributing to a high burden of SCA on parents [6]. Cameroonian SCA patients can present with exceptionally severe phenotypes, as illustrated by a high rate of stroke [8] and severely impaired neurocognitive functions [9].…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

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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“…SCD patients in Cameroon frequently suffer exceptionally severe complications such as stroke (Njamnshi et al, 2006) and executive neurocognitive compromise (Ruffieux et al, 2013). Consanguinity, ascertained by pedigree analysis, is observed in 5.7% of the population, most of which is found in the northern Sahelian regions of Cameroon where the AraboMuslim influence is stronger (Wonkam et al 2013b).…”

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confidence: 99%

Beta-Globin Gene Haplotypes Among Cameroonians and Review of the Global Distribution: Is There a Case for a Single Sickle Mutation Origin in Africa?

Bitoungui

Pule

Hanchard

et al. 2015

OMICS: A Journal of Integrative Biology

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Studies of hemoglobin S haplotypes in African subpopulations have potential implications for patient care and our understanding of genetic factors that have shaped the prevalence of sickle cell disease (SCD). We evaluated HBB gene cluster haplotypes in SCD patients from Cameroon, and reviewed the literature for a global distribution. We reviewed medical records to obtain pertinent socio-demographic and clinical features for 610 Cameroonian SCD patients, including hemoglobin electrophoresis and full blood counts. RFLP-PCR was used to determine the HBB gene haplotype on 1082 chromosomes. A systematic review of the current literature was undertaken to catalogue HBB haplotype frequencies in SCD populations around the world. Benin (74%; n = 799) and Cameroon (19%; n = 207) were the most prevalent haplotypes observed among Cameroonian patients. There was no significant association between HBB haplotypes and clinical life events, anthropometric measures, hematological parameters, or fetal hemoglobin (HbF) levels. The literature review of the global haplotype distributions was consistent with known historical migrations of the people of Africa. Previously reported data from Sudan showed a distinctly unusual pattern; all four classical haplotypes were reported, with an exceptionally high proportion of the Senegal, Cameroon, and atypical haplotypes. We did not observe any significant associations between HBB haplotype and SCD disease course in this cohort. Taken together, the data from Cameroon and from the wider literature suggest that a careful reassessment of African HBB haplotypes may shed further light on the evolutionary dynamics of the sickle allele, which could suggest a single origin of the sickle mutation.

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“…3,[6][7][8][9][10] Cognitive dysfunction in SCA appears to worsen with age, 7,11 and individuals with SCA are now living longer. 12 Unfortunately, few studies have evaluated cognitive functioning or associated structural brain abnormalities in adults with SCA.…”

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confidence: 99%

Neuroimaging abnormalities in adults with sickle cell anemia

Mackin

Insel²,

Truran³

et al. 2014

Neurology

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Objective: This study was conducted to determine the relationship of frontal lobe cortical thickness and basal ganglia volumes to measures of cognition in adults with sickle cell anemia (SCA).Methods: Participants included 120 adults with SCA with no history of neurologic dysfunction and 33 healthy controls (HCs). Participants were enrolled at 12 medical center sites, and raters were blinded to diagnostic group. We hypothesized that individuals with SCA would exhibit reductions in frontal lobe cortex thickness and reduced basal ganglia and thalamus volumes compared with HCs and that these structural brain abnormalities would be associated with measures of cognitive functioning (Wechsler Adult Intelligence Scale, 3rd edition). Results:

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Association between biological markers of sickle cell disease and cognitive functioning amongst Cameroonian children

Cited by 63 publications

References 40 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

Beta-Globin Gene Haplotypes Among Cameroonians and Review of the Global Distribution: Is There a Case for a Single Sickle Mutation Origin in Africa?

Neuroimaging abnormalities in adults with sickle cell anemia

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