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:10.1038/s41439-024-00275-y

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

Hum Genome Var. 2024 Apr 23;11(1):19. doi: 10.1038/s41439-024-00275-y.

Authors

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 Faculty of Health Science, University Sultan Zainal Abidin, Kuala Terengganu, Terengganu, Malaysia. nuraisyah.a@moh.gov.my.
³ 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.
⁴ Simee Health Clinic, Ipoh, Perak, Malaysia.
⁵ Department of Pathology, Hospital Raja Permaisuri Bainun, Ipoh, Perak, Malaysia.
⁶ Faculty of Health Science, University Sultan Zainal Abidin, Kuala Terengganu, Terengganu, Malaysia.

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.