Lab Med Online.  2018 Jul;8(3):114-118. 10.3343/lmo.2018.8.3.114.

Two Korean Cases of Hereditary Spherocytosis Caused by Mutations in SLC4A1

• Cho H
• Lee JW
• Chung NG
• Lee SE
• Jang W
• Kim M
• Han K
• Kim Y

• KMID: 2414133
• DOI: http://doi.org/10.3343/lmo.2018.8.3.114

Abstract

Hereditary spherocytosis (HS) is caused by mutations in the SPTA1, SPTB, ANK1, SLC4A1, and EPB42 genes, all of which encode erythrocyte membrane proteins. Mutations in SLC4A1, which encodes band 3 protein, have rarely been reported as the causative factor among Korean patients with HS. Here, we report two Korean patients with HS carrying mutations in SLC4A1. Patient 1 was a 3-year-old girl with unremarkable past and family histories and was evaluated for anemia that was detected after a complete blood count. She was suspected of having HS considering the spherocytosis of her peripheral blood smear, increased osmotic fragility, hemolytic features in blood chemistry tests, and splenomegaly. Sequence analysis revealed that the patient harbored a single heterozygous missense mutation, c.2278C>T (p.Arg760Trp) in exon 17 of SLC4A1. Patient 2 was a 23-year-old man who had a prior history of intermittent jaundice. Although the patient did not have anemia, a genetic test for HS was performed due to evidence of hemolytic features in the blood chemistry test, splenomegaly, and a family history of HS. The test confirmed a single heterozygous missense mutation, c.2423G>T (p.Arg808Leu) in exon 18 of SLC4A1.

Keyword

SLC4A1; Hereditary spherocytosis; Band 3

MeSH Terms

Anemia
Anion Exchange Protein 1, Erythrocyte
Blood Cell Count
Chemistry
Child, Preschool
Erythrocyte Membrane
Exons
Female
Humans
Jaundice
Mutation, Missense
Osmotic Fragility
Sequence Analysis
Splenomegaly
Young Adult
Anion Exchange Protein 1, Erythrocyte

Figure

• 

  Fig. 1 Sequencing chromatograms of SLC4A1 mutations. (A) Patient 1, c.2278C>T (p.Arg760Trp) in exon 17; (B) Patient 2, c.2423G>T (p.Arg808Leu) in exon 18.

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