PhenoModifier-Variant Detail

Variant "HBB:c.-79A>G"

Search result: 1 record

Variant information

Gene:

HBB

Variant:

HBB:c.-79A>G

Genomic location:

chr11:5248330(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_000518.4:c.-79A>G
	HBB-HBD:n.5248330T>C

dbSNP ID:

rs34598529

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Risk factor(1)

Detail：

Target disease:

Sickle Cell Anemia (DOID_10923)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

Assessment of genotype–phenotype associations

Effect:

Risk factor

Reference:

PMID28670947

Title:

Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].

Species studied:

Human

Abstract:

Sickle cell disease is a genetic disorder with a large variability in the pattern and severity of clinical manifestations. Different genetic modulators have been identified but very few epidemiologic data are available on these modifier genes in Senegal. This study aimed to determine their prevalence in a Senegalese sickle cell disease pediatric population. The following genetic parameters were genotyped in 295 sickle cell disease children of the Dakar pediatric hospital: sickle cell disease genotype [βS/βS (HBB: c.20A>T), βS/βC (HBB: c.19G>A), βS/β0-thalassemia (β0-thal)], XmnI polymorphism, the five most common α-thalassemia (α-thal) deletions and the A(-) and Betica glucose-6-phosphate-dehydrogenase (G6PD) deficient variants. Despite very few βS/βC and βS/β0-thal children (1.0% each), a novel frameshift β0-thal mutation was characterized: HBB: c.265_266del; p.Leu89Glufs*2. The -α3.7 (rightward) deletion was the only α-thal deletion identified in this cohort (12.0% allelic frequency). Most of βS/βS patients (61.9%) were homozygous for the XmnI polymorphism and assumed to carry a Senegal/Senegal βS haplotype. The remaining haplotypes were predominantly of the Benin type. While the Betica G6PD variant was quite frequent (13.0%), a low frequency of the A(-) variant was detected (1.0-2.0%). The systematic genotyping of the -α3.7 deletion and of the G6PD Betica variant in sickle cell disease patients from Senegal could be useful to identify patients at risk for several complications, such as cerebral vasculopathy, where it has been demonstrated that a normal α-globin genotype and G6PD deficiency are predisposing factors. These patients should be eligible for a transcranial Doppler examination that is not routinely offered in Senegal.