A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α+-Thalassemia in two Chinese Patients
| Autor: | Ming-Xiang Lin, Xian-Yao Wang, Min Lin |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics medicine.diagnostic_test Thalassemia Biochemistry (medical) Clinical Biochemistry Breakpoint Hematology Biology Compound heterozygosity medicine.disease Molecular biology 03 medical and health sciences 030104 developmental biology medicine Multiplex ligation-dependent probe amplification Hemoglobin Gene Mean corpuscular volume Genetics (clinical) Normal range |
| Zdroj: | Hemoglobin. 40:365-368 |
| ISSN: | 1532-432X 0363-0269 |
| Popis: | We report a novel –α6.3 deletion and a rare –α27.6 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 –α6.3 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 –α2... |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |