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Table 1 Analytical results of the index case and family

From: Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children

  Index case (8 months old) Twin 1 Twin 2 Sister Mother Father Rev. values
Gender
α genotype αααanti 3.7/αα αααanti3.7/αααanti3.7 αααanti3.7/αααanti3.7 Αααanti3.7/- αααanti3.7/αα αααanti3.7/αααanti3.7
β genotype β++ β+/N (normal) β+/N (normal) β+/N (normal) β+/N (normal)
HbA2 1.7 5.6 5.70 5.5 4.7 5.4
HbF 90.0 3.10 3.20 2.60 1.1 2.3
Hb (gr/dL) 6.2 10.8 9.3 10.0 8.5 11.2 13.2–18.0
Hct (%) 20.0 34.9 29.8 31.9 27.5 35.9 39.0–51.0
Red blood cells (×109/L) 2.68 5.92 5.11 5.47 4.00 5.89 4.32–5.66
MCV (fL) 74.40 58.80 58.20 58.40 68.80 60.90 80.0–98.0
MCH (pg) 22.90 18.20 18.20 18.30 21.30 19 27.30–32.60
Reticulocytes (%) 4.14 1.57 2.30 2.70 3.65 0.80–2.50
Leukocytes (×109/L) 16.0 10.9 12.1 6.40 8.6 8.4 3.7–9.5
Platelets (×109/L) 150 351 398 238 263 230 125–450
Ferritin (ng/mL) 99.9 64.2 95.8 147.7 16.2 743.4 12–300
LDH (mg/dL) 449 350 388 369 233 180–430
Total bilirubin (mg/dL) 1.40 0.37 1.01 1.35 0.60 0.30–1.20
Direct bilirubin (mg/dL) 0.31 0.09 0.26 0.0–0.20
Clinical signs and symptoms Severe anemia, failure to thrive, splenomegaly Mild/moderate anemia Mild/moderate anemia Mild anemia Moderate anemia, menorrhagia Mild anemia