Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.
| dc.rights.license | open | en_US |
| hal.structure.identifier | Aix-Marseille Université - Faculté des sciences médicales et paramédicales [AMU SMPM] | |
| dc.contributor.author | AQUARON, Robert | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | LASSEAUX, Eulalie | |
| hal.structure.identifier | University of Kinshasa [UNIKIN] | |
| dc.contributor.author | KELEKELE, Joseph | |
| hal.structure.identifier | Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM] | |
| dc.contributor.author | BONELLO PALOT, Nathalie | |
| hal.structure.identifier | Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM] | |
| dc.contributor.author | BADENS, Catherine | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ARVEILER, Benoit | |
| hal.structure.identifier | University of Kinshasa [UNIKIN] | |
| dc.contributor.author | TSHILOLO, Leon | |
| dc.date.accessioned | 2023-06-15T12:37:45Z | |
| dc.date.available | 2023-06-15T12:37:45Z | |
| dc.date.issued | 2022-10-01 | |
| dc.identifier.issn | 1878-0849 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/182693 | |
| dc.description.abstractEn | Oculocutaneous albinism type 2 (OCA2) is a pigmentation disorder characterized by hypopigmentation of the skin, hair and eyes and ocular features. Sickle cell disease (SCD) is caused either by homozygosity of the beta globin gene variant c.20A > T/p.Glu6Val giving rise to severe anemia or by combined abnormal hemoglobins (HbS/βthal) leading to mild SCD. We report a 45 years old female patient from the Democratic Republic of Congo affected with these two disorders. She presented with creamy white skin and numerous pigmented patches called dendritic freckles, nystagmus, foveal hypoplasia grade 2, photophobia and very poor visual acuity. Sequencing of the OCA2 gene identified the common exon 7 deletion and a new pathogenic variant c.1444A > C/p.Thr482Pro. She had mild SCD with a total Hb level of 101 g/l. Hbβ sequencing identified variants c.20A > T giving rise to HbS and c.315 + 1 G > A characteristic of β-thalassemia. A heterozygous 3.7 kb deletion of the α globin gene was also found. The combined Hbβ/α globin genotype explains the mild SCD phenotype. Co-occurrence of OCA2 and SCD raises the question whether the patient's phenotype simply results from the addition of the two diseases' phenotypes or whether interaction between the two diseases modulates the phenotype of each other. | |
| dc.language.iso | EN | en_US |
| dc.subject.en | Oculocutaneous albinism type 2 | |
| dc.subject.en | Sickle cell disease | |
| dc.subject.en | Dendritic freckles | |
| dc.subject.en | Fetal hemoglobin | |
| dc.subject.en | β-Thalassemia | |
| dc.title.en | Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo. | |
| dc.title.alternative | Eur J Med Genet | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1016/j.ejmg.2022.104594 | en_US |
| dc.identifier.pubmed | 35964929 | en_US |
| bordeaux.page | 104594 | en_US |
| bordeaux.volume | 65 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 10 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.import.source | pubmed | |
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| dc.rights.cc | Pas de Licence CC | en_US |
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