Summary of Hematologic Data and HLA-H Status of Family Members
| . | Proband . | Mother . | Daughter . | Normal Range . |
|---|---|---|---|---|
| Age (yr) | 63 | 63 | 26 | |
| Hb (g/dL) | 7.8 | 14.0 | 14.2 | |
| RBC (×1012/L) | 3.25 | 4.95 | 5.75 | |
| MCV (fL) | 73.6 | 83.2 | 73.8 | |
| MCH (pg) | 22.5 | 28.2 | 24.7 | |
| MCV/RBC* | 16.8 | 12.8 | ||
| % HbF | 8.2 | 0.1 | 0.5 | <0.1 |
| % HbA2 | 5.6 | 2.0 | 2.8 | <3.5 |
| sTfR (ng/mL) | 7.97 | 1.28 | 1.32 | 0.85-3.05 |
| α/β Biosynthesis | ||||
| ratio | 4.1 | — | 2.1 | 0.9-1.2 |
| Ferritin (μg/L) | 3,000 | 130 | 20 | 15-200 |
| HLA-H genotype | ||||
| at codon 282 | Cys/Tyr | Cys/Cys | Cys/Tyr |
| . | Proband . | Mother . | Daughter . | Normal Range . |
|---|---|---|---|---|
| Age (yr) | 63 | 63 | 26 | |
| Hb (g/dL) | 7.8 | 14.0 | 14.2 | |
| RBC (×1012/L) | 3.25 | 4.95 | 5.75 | |
| MCV (fL) | 73.6 | 83.2 | 73.8 | |
| MCH (pg) | 22.5 | 28.2 | 24.7 | |
| MCV/RBC* | 16.8 | 12.8 | ||
| % HbF | 8.2 | 0.1 | 0.5 | <0.1 |
| % HbA2 | 5.6 | 2.0 | 2.8 | <3.5 |
| sTfR (ng/mL) | 7.97 | 1.28 | 1.32 | 0.85-3.05 |
| α/β Biosynthesis | ||||
| ratio | 4.1 | — | 2.1 | 0.9-1.2 |
| Ferritin (μg/L) | 3,000 | 130 | 20 | 15-200 |
| HLA-H genotype | ||||
| at codon 282 | Cys/Tyr | Cys/Cys | Cys/Tyr |
The ratio MCV/RBC has been proposed by Mentzer as a useful index of differentiating iron deficiency anemia from thalassemia trait. A value of less than 14 is supportive of heterozygous thalassemia.