Table 1. Thalassemia screening and risk assessment of severe thalassemia disease in fetus during January 2021 to April 2023 at single center (n = 3, 623).
N and P indicate negative, and positive.
| Couples screening (N = 1,658 couples; 84.25%) | |||||||
|---|---|---|---|---|---|---|---|
| Parent I | Parent II |
N
(3,316) |
Possible risk of severe thalassemia disease in fetus | ||||
| MCV* | MCH* | DCIP* | MCV* | MCH* | DCIP* | ||
| N (86.4 ± 3.3) | N (29.2 ± 1.3) | N | N (86.6 ± 3.2) | N (29.1 ± 1.2) | N | 447 (x2) | No risk of severe thalassemia disease |
| N (86.8 ± 3.4) | N (29.3 ± 1.3) | N | P (75.8 ± 6.5) | P (24.5 ± 2.6) | N | 393 (x2) | No risk of severe thalassemia disease |
| N (86.3 ± 3.2) | N (29.2 ± 1.8) | N | P (72.4 ± 6.7) | P (24.0 ± 2.4) | P | 379 (x2) | No risk of severe thalassemia disease |
| N (82.4 ± 1.7) | N (27.8 ± 0.9) | P | N (86.3 ± 3.4) | N (29.1 ± 1.3) | N | 33 (x2) | No risk of severe thalassemia disease |
| N (82.3 ± 1.4) | N (27.7 ± 0.6) | P | P (74.0 ± 2.4) | P (24.6 ± 1.1) | P | 13 (x2) | Compound heterozygous β0 - thalassemia and Hb E |
| P (75.9 ± 6.1) | P (24.5 ± 2.2) | N | N (82.7 ± 1.9) | N (27.8 ± 0.6) | P | 16 (x2) | Compound heterozygous β0-thalassemia and Hb E |
| P (76.1 ± 5.6) | P (24.7 ± 2.3) | N | P (76.6 ± 6.1) | P (24.7 ± 2.5) | N | 83 (x2) | Homozygous α0-thalassemia Homozygous β0-thalassemia |
| P (75.7 ± 6.4) | P (24.5 ± 2.6) | N | P (72.4 ± 6.1) | P (24.0 ± 2.1) | P | 202 (x2) | Homozygous α0-thalassemia Homozygous β0-thalassemia Compound heterozygous β0 - thalassemia and Hb E |
| P (73.7 ± 6.5) | P (24.6 ± 2.3) | P | P (73.6 ± 5.7) | P (24.5 ± 2.0) | P | 92 (x2) | Homozygous α0-thalassemia Homozygous β0-thalassemia Compound heterozygous β0-thalassemia and Hb E |
| Single pregnant women screening (N = 310 single; 15.75%) | |||||||
| MCV | MCH | DCIP | Paternal screening required | N (307) | Possible severe thalassemia disease in fetus | ||
| N (86.7 ± 3.4) | N (29.2 ± 1.2) | N | No | 143 | No risk of severe thalassemia disease | ||
| P (76.4 ± 6.1) | P (24.7 ± 2.5) | N | Yes | 84 | Have a risk of severe thalassemia disease | ||
| N (82.2) | N (27.7) | P | Yes | 1 | Have a risk of severe thalassemia disease | ||
| P (73.2 ± 6.1) | P (24.4 ± 2.2) | P | Yes | 79 | Have a risk of severe thalassemia disease | ||
Notes.
*
MCV, MCH, and DCIP indicate mean corpuscular volume, mean corpuscular hemoglobin, and Dichlorophenol Indophenol Precipitation.