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

Aziz NA 1 , Musa NH 2 , Mathews M 3 , Rajenderan KT 4 , Abdul Hamid FS 2 , Hassan S 2 Show all authors , Omar SL 2 , Wan Yusoff WNAB 2 , Mohd Din MLB 2 , Jamaludin NAB 2 , Wan Taib WR 5 , Esa E 2 , Mohd Yasin N 2

Affiliations 

  • 1 Hematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia. nuraisyah.a@moh.gov.my
  • 2 Hematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia Alam, Shah Alam, Selangor, Malaysia
  • 3 Simee Health Clinic, Ipoh, Perak, Malaysia
  • 4 Department of Pathology, Hospital Raja Permaisuri Bainun, Ipoh, Perak, Malaysia
  • 5 Faculty of Health Science, University Sultan Zainal Abidin, Kuala Terengganu, Terengganu, Malaysia
Hum Genome Var, 2024 Apr 23;11(1):19.
PMID: 38653961 DOI: 10.1038/s41439-024-00275-y

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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