Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis.
Nur Aisyah AzizNurul Hidayah MusaMelina MathewsKomalah Thevii RajenderanFaidatul Syazlin Abdul HamidSyahzuwan HassanSyahira Lazira OmarWan Nurul Afiqha Binti Wan YusoffMelanie Ling Binti Mohd DinNurul Amira Binti JamaludinWan Rohani Wan TaibEzalia EsaNorafiza Mohd YasinPublished in: Human genome variation (2024)
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.