First Observation of Hemoglobin Jabalpur [Beta 3 (NA3) Leu>Pro] in the Turkish Population

Received/Geliş tarihi : January 20, 2014 Accepted/Kabul tarihi : April 18, 2014 To the Editor, Hemoglobin Jabalpur [beta 3(NA3) Leu>Pro] is a rare hemoglobin variant previously described in the HBVar database of the Globin Gene Server [1]. In the present paper we report Hb Jabalpur identified in a Turkish family. This is the first report of Hb Jabalpur in the Turkish population. The patient was an asymptomatic 19-year-old male who presented to the outpatient hematology clinic for further evaluation of mild anemia. On physical examination the patient’s liver and spleen were not palpable. The patient’s complete blood cell count showed a hemoglobin level of 116 g/L (Table 1). Cation-exchange high-performance liquid chromatography, which was performed using the Primus Ultra2 Hb variant analyzer (Trinity Biotech, Dublin, Ireland), showed abnormal hemoglobin amounting to 30.9% of total hemoglobin. Hb Jabalpur was eluted immediately before Hb A0 in the Hb A window. Using direct Sanger sequencing (ABI 3130 Genetic Analyzer, Applied Biosystems, Foster City, CA, USA), we characterized the Hb variant as resulting from a CTG>CCG (c.11T>C, p.L4P, rs63750720, NCBI refSeq: NG_000007.3) replacement at codon 3 of the β-globin chain, corresponding to a Leu→Pro amino acid substitution (Figure 1). This mutation is not listed in the Human Gene Mutation Database as a disease-causing mutation, while it is present in the Hemoglobin Variation Database (HbVar: A Database of Human Hemoglobin Variants and Thalassemias) as Hb variant Jabalpur. Informed consent was obtained.