Research Article
Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family
Table 1
The hematological screening and molecular analysis results of this family.
| | Parameters | Proband | Proband’s father | Proband’s mother |
| | Sex-age | F-4 | M-33 | F-31 | | RBC (1012/L) | 5.25 | 6.31 | 4.16 | | Hb (g/L) | 105 | 139 | 121 | | MCV fL) | 62.5 | 70.7 | 89.4 | | MCH (pg) | 20 | 22 | 29.1 | | Hb A (%) | 84.1 | 86.3 | 97.5 | | Hb A2 (%) | 2.3 | 2.4 | 2.5 | | Hb F (%) | 3.8 | 1.0 | 0 | | Hb zone 6 (%) | 9.8 | 10.3 | 0 | | Thalassemia genotype | Hb Lepore-Quanzhou | Hb Lepore-Quanzhou | Normal |
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M: male; F: female; N: normal; Hb: hemoglobin; MCV: mean corpuscular volume; MCH: mean corpuscular hemoglobin.
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