Case Report
EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia
Table 1
Steady-state hematological indices of index case and family members.
| | Proband | Brother | Sister | Mother | Father | | Age | 1 mo | 3 mo | 1 yr | 2 yr | 3 yr |
| | α-Genotype | −SEA/−α3.7 | −SEA/−α3.7 | −SEA/αCSα | −SEA/αα | −α3.7/αCSα | | β-Genotype | βE/βE | β/β | β/βE | β/βE | β/βE | | Hb (g/dl) | 10.1 | 8.1 | 8.9 | 9.2 | 9.4 | 9.1 | 7.4 | 12.3 | 11.5 | | RBC (1012/l) | 4.60 | 5.04 | 6.29 | 6.40 | 6.56 | 5.91 | 5.10 | 6.16 | 5.12 | | Hct (%) | 32.5 | 24.6 | 25.6 | 28.3 | 29.0 | 30.9 | 27.7 | 39.1 | 36.7 | | MCV (fl) | 70.7 | 48.8 | 40.7 | 44.2 | 44.2 | 52.3 | 54.3 | 63.5 | 71.7 | | MCH (pg) | 22.0 | 16.1 | 14.1 | 14.4 | 14.3 | 15.4 | 14.5 | 20.0 | 22.5 | | MCHC (g/dl) | 31.1 | 32.9 | 34.8 | 32.5 | 32.4 | 29.4 | 26.7 | 31.5 | 31.3 | | Retic (%) | 1.11 | | 0.38 | 0.72 | 0.37 | 1.47 | 7.50 | 0.97 | 1.30 | | HbF (%) | 64.1 | 47 | 7.6 | 2.2 | 1.5 | 0.0 | 0.0 | 0.0 | 0.0 | | HbA2 (%) | | 3.3 | | 8.0 | 8.0 | 1.4 | 2.3 | 3.7 | 2.8 | | HbE (%) | | 43.3 | | 89.7 | 90.5 | 0.0 | 12.6 | 17.2 | 17.2 | | Hb Bart’s (%) | | 6.4 | | | | 0.0 | 0.6 | 0.0 | 0.0 | | HbH (%) | | | | | | 4.4 | | | | | HbCS (%) | | | | | | | 2.7 | | | | S. iron (mcg/dl) | | | | | | | 102 | | | | S. ferritin (ng/ml) | | | | | 83.3 | 62.7 | 498 | | |
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Abbreviations: Hb = hemoglobin; Hb CS = hemoglobin Constant Spring; RBC = red blood cell; Hct = hematocrit; MCV = mean corpuscular volume; MCH = mean corpuscular hemoglobin; MCHC = mean corpuscular hemoglobin concentration; retic = reticulocyte; mo = month; yr = year.
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