Table 1
Haematological and clinical profiles of patients with Hb Q-H disease
| Patient | Sex | Age (years) | L | S | History of transfusion | Hb (g/l) | MCV (fl) | MCH (pg) | Hb H (%) | Hb A (%) | Hb A2 (%) | Hb F (%) | Hb Q-Thailand (%) | Retic (%) | Bilirubin (μmol/l) | Iron (μmol/l) | Ferritin (pmol/l) | Transferrin saturation (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| *Splenectomy performed; †gallstones present; ‡hepatitis C carrier, liver biopsy showed chronic hepatitis and grade 2 iron overload (modified Scheuer grading); §mean values quoted for age and laboratory parameters in these 12 patients with deletional HbH disease as a result of – –SEA/−α4.2 configuration; ¶splenectomy performed in one patient. | ||||||||||||||||||
| Reference ranges: Hb, 130–180 g/l (men), 115–165 g/l (women); MCV, 80–96 fl; MCH, 27–32 pg; HbA2, 2.3–3%; HbF<0.9%; reticulocytes, 0.2–2%; bilirubin, 7–19 μmol/l; iron, 9–33 μmol/l (men), 5–28 μmol/l (women); ferritin, 115–884 pmol/l (men), 15–331 pmol/l (women); transferrin saturation, 15–45%. | ||||||||||||||||||
| Hb, haemoglobin; Hb H, percentage of red cells with HbH inclusions; L, hepatomegaly; MCH, mean cell haemoglobin; MCV, mean cell volume; N, absent; NA, not applicable; Retic, reticulocytes; S, splenomegaly; Y, present; –, data not available. | ||||||||||||||||||
| 1 | M | 58 | N | N | N | 96 | 83.4 | 20.0 | 70 | 0 | 0.3 | <0.3 | 97.9 | – | – | 39 | 5200 | – |
| 2 | M | 17 | N | N | N | 105 | 60.5 | 18.5 | 80 | 0 | 3.4 | <0.3 | 93.9 | – | – | – | – | – |
| 3† | M | 28 | Y | Y | N | 100 | 63.6 | 18.8 | 90 | 0 | 2.7 | <0.3 | 95.6 | 9.2 | 90 | 32 | 1430 | 77 |
| 4 | M | 23 | N | Y* | Y | 105 | 59.7 | 18.4 | 89 | 0 | 2.4 | <0.3 | 95.8 | 4.7 | 35 | 20 | 965 | 16 |
| 5 | M | 38 | N | N | N | 10.9 | 66.6 | 18.1 | 90 | 0 | 3.0 | 0.5 | 94.2 | 3.7 | 30 | 21 | 1530 | 38 |
| 6† | F | 68 | N | Y* | Y | 79 | 70.2 | 18.9 | 70 | 0 | 2.1 | <0.3 | 93.9 | 6.5 | – | 25 | 467 | – |
| 7‡ | F | 49 | Y | Y | Y | 84 | 77.2 | 21.7 | 85 | 0 | 1.2 | <0.3 | 96.9 | 5.0 | 26 | – | 1907 | – |
| HbH disease – –SEA/−α4.2 (n = 12)§ | 35 | 1 case | 4 cases¶ | 3 cases, all transfusion independent | 94 | 63.9 | 17.0 | 65 | NA | NA | NA | NA | 5.0 | 29.1 | 20 | 1108 | 41 | |
