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Title of Journal: Ann Hematol

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Abbravation: Annals of Hematology

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Springer Berlin Heidelberg

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DOI

10.1007/bf02494363

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1432-0584

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A de novo ankyrin mutation ANK1 Q109X causing se

Authors: Sha Liu Hua Jiang LvYin Huang DongZhi Li
Publish Date: 2017/03/09
Volume: 96, Issue: 6, Pages: 1067-1068
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Abstract

Hereditary spherocytosis HS is the most common cause of inherited chronic hemolysis with a wide clinical spectrum from symptomfree carriers to severe hemolysis characterized by anemia variable jaundice splenomegaly and cholelithiasis This disorder results from mutations in one of the following genes SPTA1 1q21 SPTB 14q233 ANK1 8p1121SLC4A1 17q2131 and EPB42 15q15q21 that encode the red blood cell membrane proteins erythrocytic 1 spectrin alpha chain erythrocytic 1 spectrin beta chain ankyrin1 band 3 anion transport protein and erythrocyte membrane protein band 42 respectively 1 2 Defects in these proteins lead to a loss in membrane cohesion and membrane surface area resulting in erythrocyte sphering decreased deformability and premature destruction in the spleen In about two thirds of patients the disease is inherited in a dominant pattern In this group of “typical” HS patients nonsense and frameshift mutations of ankyrin are

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