AI Article Synopsis
- * A 16-year-old male was diagnosed with secondary erythrocytosis, and the identification of Hb Vancleave involved genetic sequencing to confirm its presence.
- * The study emphasizes the critical role of genetic sequencing for accurately diagnosing conditions like beta-thalassemia syndrome in Malaysia.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11039651 | PMC |
| http://dx.doi.org/10.1038/s41439-024-00275-y | DOI Listing |
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