Table 3a.

Genes Associated With Hereditary Spherocytosis

GeneProteinMOISeverity 1CommentOMIM
ANK1 Ankyrin-1ADMild to moderate 182900
ARModerately severe to severeOften transfusion dependent
EPB42 Protein 4.2 2ARMild to moderate 31 person reported w/moderately severe HS 612690
SLC4A1 Band 3 anion transport proteinADMild to moderate 612653
ARSevere 2Rare; persons present w/life-threatening hydrops fetalis & remain transfusion dependent even after splenectomy.
SPTA1 Spectrin alpha chain, erythrocytic 1ARSevereVery frequently transfusion dependent 270970
SPTB Spectrin beta chain, erythrocyticADMild to moderate 616649
ARSevere1 person reported: infant w/fatal HS

AD = autosomal dominant; AR = autosomal recessive; HS = hereditary spherocytosis; MOI = mode of inheritance

1.

Defined in Table 1.

2.

Significant decrease or absence of erythrocyte membrane protein 4.2 in erythrocytes of persons with HS may also be secondary to biallelic SLC4A1 pathogenic variants by either decreasing band 3 in the red blood cell membrane [Toye et al 2008] or affecting the band 3 binding site for protein 4.2 [Kanzaki et al 1997].

3.

EPB42-related HS is typically milder than the other forms of HS inherited in an AR manner (i.e., autosomal recessive ANK1-related HS and SPTA1-related HS) [Kalfa 2021].

From: EPB42-Related Hereditary Spherocytosis

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