Effects of Senegal haplotype ( Xmn1 -rs7412844), alpha-thalassemia (3.7kb HBA1/HBA2 deletion), NPRL3 -rs11248850 and BCL11A -rs4671393 variants on sickle cell nephropathy.

El Hadji Malick Ndour,Khuthala Mnika,Fatou Guèye Tall,Moussa Seck,Indou Dème Ly,Victoria Nembaware,Hélène Ange Thérèse Sagna-Bassène,Rokhaya Dione,Aliou Abdoulaye Ndongo,Jean Pascal Demba Diop,Nènè Oumou Kesso Barry,Moustapha Djité,Rokhaya Ndiaye Diallo,Papa Madièye Guèye,Saliou Diop,Ibrahima Diagne,Aynina Cissé,Ambroise Wonkam,Philomène Lopez Sall

International journal of biochemistry and molecular biology（2022）

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摘要

All four variants displayed a protective effect against albuminuria stage A2. The combination alpha-thalassemia - -rs11248850 variant is a risk factor for glomerular hyperfiltration.

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关键词

Senegal haplotype,albuminuria,alpha-thalassemia,glomerular filtration rate,kidney dysfunction

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