Scholarlink

<p>We report a 15-year-old boy from Karnataka, India, initially misdiagnosed as HbE/β-thalassemia. On follow-up, Capillary electrophoresis (CE) showed a 3.3% peak in Zone 4, with the WBC Differential Fluorescence (WDF) scattergram on the Sysmex XN 10 instrument suggesting an unstable hemoglobin. CE pattern, along with heat stability testing, mass spectrometry, and molecular sequencing, confirmed Hb Köln (β98 Val → Met), also detected in his father. This case emphasizes the need to suspect unstable hemoglobins in unexplained hemolysis and highlights the diagnostic value of CE and WDF scattergram.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Rare variant hemoglobin Köln in Southern India—an underdiagnosed entity?

  • 期刊论文

  • 发表日期：

    2025年12月3日

查看全文
  • Swathi Kulkarni,
  • Deepalakshmi D. Putchen,
  • Pradeep Kumar Venkatachala,
  • Parameswaran Anoop,
  • Glen Sheldon Vaz,
  • Ananthvikas Jayaram,
  • Sujay Prasad

摘要

We report a 15-year-old boy from Karnataka, India, initially misdiagnosed as HbE/β-thalassemia. On follow-up, Capillary electrophoresis (CE) showed a 3.3% peak in Zone 4, with the WBC Differential Fluorescence (WDF) scattergram on the Sysmex XN 10 instrument suggesting an unstable hemoglobin. CE pattern, along with heat stability testing, mass spectrometry, and molecular sequencing, confirmed Hb Köln (β98 Val → Met), also detected in his father. This case emphasizes the need to suspect unstable hemoglobins in unexplained hemolysis and highlights the diagnostic value of CE and WDF scattergram.