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Dergiler / The European Research Journal / 2026 / Volume: 11 Issue: 1

Clinical and genetic diagnosis of two Turkish patients with hereditary spherocytosis

Çağrı Coşkun(Department of Pediatric Hematology and Oncology, Sivas Numune Hospital, Sivas, Türkiye)0000-0001-9725-8355
Sayfa
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Yayın Tarihi
2025-01-04
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

NGS may be helpful in diagnosing hereditary spherocytosis, especially in atypical cases.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Hereditary spherocytosis is a congenital disorder caused by defects in the erythrocyte membrane.
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Temel Bulgular & Veri: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.
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Sonuç & Katkı:NGS may be helpful in diagnosing hereditary spherocytosis, especially in atypical cases.
🔬Tür:Case Report
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Hereditary spherocytosis · hemolytic anemia · neonatal jaundice

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.

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Bu Makaleye Atıf Yap

Coşkun, Ç. (2025). Clinical and genetic diagnosis of two Turkish patients with hereditary spherocytosis. The European Research Journal, Volume: 11 Issue: 1. https://doi.org/10.18621/eurj.1512399

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Kaynakça (24)

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