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

Author:

Aquaron Robert,Lasseaux Eulalie,Kelekele Joseph,Bonello-Palot Nathalie,Badens Catherine,Arveiler Benoit,Tshilolo Leon

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference28 articles.

1. Bakare MO Severity in phenotypic expression of homozygous sickle cell disease (Hb.SS)- does hypermelanotic or hypomelanotic skin status of affected patients play a role?;Medical Hypothesis,2011

2. Battaglini PF Etudes seroanthropologiques des populations albinos et melanodermes Bamileke (Cameroun) : groupes erythrocytaires ABO et rhesus, hemoglobine S et sensibilité gustative à la phenylthiocarbamide;Aquaron;Med. Trop.,1984

3. Grandchamp B Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene;Aquaron;J. Hum. Genet.,2007

4. Brilliant M what can we learn from the distribution of the 2.7kb deletion mutation of the OCA2 gene in oculocutaneous albinism type 2(OCA2) in Cameroon and in Sub-Saharan countries?;Aquaron;JSM Dermatol Clin Res,2019

5. The genetic legacy of western Bantu migrations;Beleza;Hum. Genet.,2005

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Genotypic spectrum of albinism in Mali;Pigment Cell & Melanoma Research;2024-05-09

2. GENOTYPIC SPECTRUM OF ALBINISM IN MALI;2024-03-07

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