Hematologic results and β-globin genotypes in 3 couples and their 4 children with β-thalassemia major
Family no., characteristic . | Father . | Mother . | Child . |
|---|---|---|---|
| 1 | |||
| Age at diagnosis, mo | NA | NA | 1 |
| Hb, g/dL | 12.6 | 11.0 | 10.6 |
| MCV, fL | 67 | 65 | 82 |
| Hb A, % | 94 | 93 | None |
| Hb A2, % | 5.2 | 5.6 | None |
| Hb F, % | 0.7 | 1.4 | 99 |
| β-Globin genotype | Heterozygous for IVSI-1 (G > A) β0-thalassema mutation | Heterozygous for IVSI-1 (G > A) β0-thalassema mutation | Homozygous for IVSI-1 (G > A) β0-thalassema mutation |
| 2 | |||
| Age at diagnosis, mo | NA | NA | 1.5 |
| Hb, g/dL | 13.7 | 12.4 | 8.7 |
| MCV, fL | 60 | 63 | 82 |
| Hb A, % | 94 | 94 | None |
| Hb A2, % | 5.4 | 5.0 | None |
| Hb F, % | 0.6 | 0.5 | 99 |
| β-Globin genotype | Heterozygous for IVSII-654 (C > T) β+-thalassemia mutation | Heterozygous for codons 41/42 (–CTTT) β0-thalassemia mutation | Compound heterozygous for both parental β-thalassemia mutations |
| 3 | |||
| Age at diagnosis, y | NA | NA | 4 |
| Hb, g/dL | 15.9 | 10.8 | 5.5; 5.2 |
| MCV, fL | 63 | 56 | 64; 64 |
| Hb A, % | 95 | 93 | 33; 34 |
| Hb A2, % | 4.1 | 5.7 | 4.9; 5.1 |
| Hb F, % | 0.2 | 0.6 | 64.4; 63.9 |
| β-Globin genotype | Heterozygous for IVSI-6 (T > C) β+-thalassemia mutation | Heterozygous for codon 39 (CAG > TAG) β0-thalassemia mutation | Compound heterozygous for both parental β-thalassemia mutations |
Family no., characteristic . | Father . | Mother . | Child . |
|---|---|---|---|
| 1 | |||
| Age at diagnosis, mo | NA | NA | 1 |
| Hb, g/dL | 12.6 | 11.0 | 10.6 |
| MCV, fL | 67 | 65 | 82 |
| Hb A, % | 94 | 93 | None |
| Hb A2, % | 5.2 | 5.6 | None |
| Hb F, % | 0.7 | 1.4 | 99 |
| β-Globin genotype | Heterozygous for IVSI-1 (G > A) β0-thalassema mutation | Heterozygous for IVSI-1 (G > A) β0-thalassema mutation | Homozygous for IVSI-1 (G > A) β0-thalassema mutation |
| 2 | |||
| Age at diagnosis, mo | NA | NA | 1.5 |
| Hb, g/dL | 13.7 | 12.4 | 8.7 |
| MCV, fL | 60 | 63 | 82 |
| Hb A, % | 94 | 94 | None |
| Hb A2, % | 5.4 | 5.0 | None |
| Hb F, % | 0.6 | 0.5 | 99 |
| β-Globin genotype | Heterozygous for IVSII-654 (C > T) β+-thalassemia mutation | Heterozygous for codons 41/42 (–CTTT) β0-thalassemia mutation | Compound heterozygous for both parental β-thalassemia mutations |
| 3 | |||
| Age at diagnosis, y | NA | NA | 4 |
| Hb, g/dL | 15.9 | 10.8 | 5.5; 5.2 |
| MCV, fL | 63 | 56 | 64; 64 |
| Hb A, % | 95 | 93 | 33; 34 |
| Hb A2, % | 4.1 | 5.7 | 4.9; 5.1 |
| Hb F, % | 0.2 | 0.6 | 64.4; 63.9 |
| β-Globin genotype | Heterozygous for IVSI-6 (T > C) β+-thalassemia mutation | Heterozygous for codon 39 (CAG > TAG) β0-thalassemia mutation | Compound heterozygous for both parental β-thalassemia mutations |
Both twins born to family no. 3 (values separated by semicolons in right-hand column) inherited both parental β-thalassemia mutations. The IVSI-1 (G > A) mutation is commonly found in the Indian subcontinent, the Middle East, and part of the Mediterranean region; the IVSII-654 (C > T) and codons 41/42 (–CTTT) mutations are commonly found in Southeast Asia and in China; and the IVSI-6 (T > C) and codon 39 (CAG > TAG) mutations are commonly found in the Mediterranean region.
To convert hemoglobin from grams per deciliter to grams per liter, multiply grams per deciliter by 10.
NA indicates not applicable.