Hemoglobin Lansing (Alpha) [HBA2 CD87 (HIS>GLU) (C>A)] in a Turkish Individual Resulting from Another Nucleotide Substitution

Received/Geliş tarihi : March 4, 2014 Accepted/Kabul tarihi : April 14, 2014 To the Editor, Several hemoglobin variants, including novel ones, have been reported in the Turkish population [1,2,3]. Herein, we describe a novel nucleotide alteration of the alpha-2 chain variant, hemoglobin (Hb) Lansing CD87 (HIS>GLU). The index case was a 21-year-old Turkish woman living in Ankara. She was admitted to the TOBB-ETU University Pediatrics Outpatient Department for premarital counseling. Her physical examination was normal. Hemoglobin, hematocrit, and MCV values were 13.1 g/dL, 42.7%, and 95 fL, respectively. Levels of Hb A1, Hb A2, and Hb X were observed as 65.5%, 1.88%, and 22.24%, respectively, with high-pressure liquid chromatography. Written informed consent for genetic analysis was obtained from the patient. DNA was isolated from a peripheral blood sample with the phenol-chloroform protocol. All of the exons of the HBB, HBA1, and HBA2 genes were amplified by polymerase chain reaction (PCR). The entire coding and intronic sequences of the alpha-1 and alpha-2 globin genes were amplified as one amplicon each. While the forward primer was the same for the 2 genes, the reverse primers were specific to the alpha-1 and alpha-2 genes. These amplicons were sequenced using internal primers as described previously [4,5]. PCR products were cleaned with a PCR purification kit (Roche, Germany) and then samples were sequenced using an automatic DNA Sequencer (Beckman Coulter, USA). The DNA was also tested for the -α3.7, -α4.2, -MED, and -α20.5 deletions using multiplex PCR according to the described methods [6,7].