A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α+-Thalassemia in two Chinese Patients. (2nd September 2016)

• Record Type: Journal Article
• Authors: Wang, Xian-Yao; Lin, Ming-Xiang; Lin, Min
• Is Part Of: Hemoglobin. Volume 40:Number 5(2016)
• Page Start: 365
• Page End: 368
• Publication Date: 2016-09-02
• Subjects: α-Thalassemia (α-thal) -- Chinese -- novel deletion; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2016.1211535
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report a novel –α 6.3 deletion and a rare –α 27.6 deletion causing α + -thalassemia (α + -thal), in two Chinese patients. One patient was a 35-year-old Chinese man with a mild α + -thal phenotype [mean corpuscular volume (MCV) 83.6 fL] and the Hb A2 level (2.5%) was close to borderline of the normal range. Multiplex ligation-dependent probe amplification (MLPA) revealed a novel 6344 bp deletion involving the entire HBA1 gene. Mapping by gap-polymerase chain reaction (gap-PCR) defined the exact breakpoint of this deletion to be NG_000006.1: g.31022_37366del6344. It was unique relative to other forms of α-thalassemia (α-thal) reported in the literature, and was designated as –α 6.3 deletion. The other patient, a 41-year-old woman had Hb H (β4) disease [hemoglobin (Hb) level of 8.9 g/dL] with a compound heterozygosity for the – – SEA (NG_000006.1: g.26264_45564del19301) deletion. The MLPA and gap-PCR methodologies confirmed the breakpoint (NG_000006.1: g.9079_36718del27640) and identified it as the rare –α 27.6 deletion.