SLC4A1 유전자 변이에 의한 한국인 유전구형적혈구증 2예
Two Korean Cases of Hereditary Spherocytosis Caused by Mutations in SLC4A1
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초록
유전구형적혈구증은 적혈구 막 단백의 해당 유전자인 SPTA1, SPTB, ANK1, SLC4A1, EPB42의 돌연변이에 의해 발생한다. Band 3 단백질의 해당 유전자인 SLC4A1의 돌연변이에 의한 구형적혈구증은 한국인 환자에서는 드물게 보고되어 있다. 환자 1은 특별한 과거력 및 가족력이 없던 3세 여아로 기관지폐렴으로 내원하여 우연히 빈혈을 확인했으며, 말초혈액도말검사에서 구형적혈구증, 삼투압취약성 증가, 화학검사에서 용혈소견 및 비장종대를 보여 유전구형적혈구증을 의심하였다. 직접염기서열검사에서 SLC4A1 유전자의 exon 17에서 이형접합 과오돌연변이 c.2278C>T (p.Arg760Trp)가 관찰되었다. 환자 2는 간헐적으로 황달 및 복통을 경험한 23세 남자로 혈색소는 정상이었으나 검사 결과 용혈 및 비장종대가 관찰되었으며, 유전구형적혈구증의 가족력이 있어 유전구형적혈구증을 의심하여 관련 유전자 검사를 실시하였다. SLC4A1 유전자의 직접염기서열검사상 exon 18에서 이형접합 과오돌연변이 c.2423G>T (p.Arg808Leu)가 관찰되었다.
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.
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