Human Genome Variation (Apr 2024)

Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis

  • Nur Aisyah Aziz,
  • Nurul Hidayah Musa,
  • Melina Mathews,
  • Komalah Thevii Rajenderan,
  • Faidatul Syazlin Abdul Hamid,
  • Syahzuwan Hassan,
  • Syahira Lazira Omar,
  • Wan Nurul Afiqha Binti Wan Yusoff,
  • Melanie Ling Binti Mohd Din,
  • Nurul Amira Binti Jamaludin,
  • Wan Rohani Wan Taib,
  • Ezalia Esa,
  • Norafiza Mohd Yasin

DOI
https://doi.org/10.1038/s41439-024-00275-y
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 4

Abstract

Read online

Abstract Hemoglobin (Hb) Vancleave (NM_000518.5:c.431 A > T; dbSNP: rs33918338) is an extremely rare structural hemoglobin variant worldwide, and studies are limited. This report describes the case of a 16-year-old male patient who presented with secondary erythrocytosis. The diagnosis of Hb Vancleave, in combination with codon 41/42 (-TTCT) (NM_000518.5:c.126_129del; dbSNP: rs80356821), was confirmed by direct sequencing. This report highlights the importance of sequencing in the differential diagnosis of beta-thalassemia syndrome in Malaysia.