Online ISSN: 2149-3189
2015
Monthly
Nicaea Medical Publishing
Türkiye

Clinical and genetic diagnosis of two Turkish patients with hereditary spherocytosis

Çağrı Coşkun
DOI
https://doi.org/10.18621/eurj.1512399
Abstract
Hereditary spherocytosis is a congenital disorder caused by defects in the erythrocyte membrane. It is characterized by hemolytic anemia, jaundice, splenomegaly, and cholelithiasis. The clinical presentation is variable. Especially in the neonatal period and cases without a family history, it isn't easy to diagnose with classical approaches. Here, we describe the genetic findings of a 1.5-month-old and a 2-month-old girl diagnosed with hereditary spherocytosis in Turkish families. Both cases presented with severe anemia and jaundice. Spherocytes were frequently seen in peripheral blood smears. Targeted next-generation sequencing (NGS) revealed that the 1.5-month-old girl was heterozygous for a novel frameshift mutation c.1617del (p.Leu540CysfsTer31) in exon 15 of the ANK1 gene, while the 2-month-old girl was heterozygous for a mutation c.1912C>T (p.Arg638Ter) in exon 13 of the SPTB gene, which leads to abnormal protein truncation. Parents did not carry these mutations. To our knowledge, the ANK1 mutation identified in a 7-month-old girl has not been reported previously. NGS may be helpful in diagnosing hereditary spherocytosis, especially in atypical cases.
Keywords
Hereditary spherocytosis, hemolytic anemia, neonatal jaundice, gene mutation
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How to Cite
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Coşkun Çağrı. Clinical and genetic diagnosis of two Turkish patients with hereditary spherocytosis. Eur Res J. 2025;11(1):129-134. doi:10.18621/eurj.1512399
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  • Article Type Case Report
  • Submitted February 21, 2026
  • Published January 3, 2025
  • Issue Vol. 11 No. 1 (2025)
  • Section Case Report
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