Clinical and laboratory features of HX patients
| Patient . | Sex . | Inheritance . | NIHF . | Perinatal anemia . | Any transfusion . | Enlarged spleen . | Splenectomy/ cholecystectomy . | Hb, g/dL . | MCV, fL . | MCH, pg . | MCHC, g/dL . | Retic count, % . | T bili, mg/dL . | OF . | Ekta-cytometry . | RBC electrolytes . | Ferritin/ chelation . | Mutation . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | Unknown | No | No | No | Yes | No/yes | 10 | 29 | 35.6 | 34.8 | 2.8 | 1.9 | Nl | No | ND | 1087/yes | R1943Q |
| 2 | F | Unknown | No | No | No | No | No/no | 13.9 | 86 | NR | 38.3 | 10 | 5.2 | Nl | Yes | Na 56, K 208 | NR | R2088G |
| 3 | M | De novo | Yes | No | Yes | Yes | No/yes | 9.9 | 108 | 36 | ND | 6.4 | 2.2 | ND | No | Na 16, K 81 | 295 | R2488Q |
| 4 | F | AD* | No | No | Yes | Yes | No/no | 9.3 | 79.7 | 28.5 | 35.7 | 3.2 | 3.8 | Nl | Yes | ND | 1240/yes | R2302H |
| 5 | F | AD | NR | NR | Yes | Yes | Yes/yes | 10 | 106 | 37.6 | 36.4 | 25 | NR | Dec | No | Na 18.6, K 59.1 | NR | K1877del |
| 6 | F | Unknown | Yes | Yes | Yes | Yes | No/no | 12.5 | 95.4 | 35.8 | 37.5 | 11.8 | 1.3 | Both | No | ND | NR | E2496ELE |
| 7 | M | AD | No | No | No | Yes | No/no | 10.6 | 98.3 | 31.8 | 32.3 | 9.6 | NR | No | No | ND | 126 | E2496ELE |
| 8 | F | AD | Yes | Yes | Yes | Yes | Yes/yes | 10 | 115 | 39.5 | 34.8 | 4.7 | 2.5 | Dec | Yes | Na 48, K 82 | 188 | E2496ELE |
| 9 | F | Unknown | No | No | Yes | Yes | Yes/yes | 9.1 | 125 | 44 | 35 | 8 | 2.4 | No | Na 9.3, K95.1 | 500 | E2496ELE |
| Patient . | Sex . | Inheritance . | NIHF . | Perinatal anemia . | Any transfusion . | Enlarged spleen . | Splenectomy/ cholecystectomy . | Hb, g/dL . | MCV, fL . | MCH, pg . | MCHC, g/dL . | Retic count, % . | T bili, mg/dL . | OF . | Ekta-cytometry . | RBC electrolytes . | Ferritin/ chelation . | Mutation . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | Unknown | No | No | No | Yes | No/yes | 10 | 29 | 35.6 | 34.8 | 2.8 | 1.9 | Nl | No | ND | 1087/yes | R1943Q |
| 2 | F | Unknown | No | No | No | No | No/no | 13.9 | 86 | NR | 38.3 | 10 | 5.2 | Nl | Yes | Na 56, K 208 | NR | R2088G |
| 3 | M | De novo | Yes | No | Yes | Yes | No/yes | 9.9 | 108 | 36 | ND | 6.4 | 2.2 | ND | No | Na 16, K 81 | 295 | R2488Q |
| 4 | F | AD* | No | No | Yes | Yes | No/no | 9.3 | 79.7 | 28.5 | 35.7 | 3.2 | 3.8 | Nl | Yes | ND | 1240/yes | R2302H |
| 5 | F | AD | NR | NR | Yes | Yes | Yes/yes | 10 | 106 | 37.6 | 36.4 | 25 | NR | Dec | No | Na 18.6, K 59.1 | NR | K1877del |
| 6 | F | Unknown | Yes | Yes | Yes | Yes | No/no | 12.5 | 95.4 | 35.8 | 37.5 | 11.8 | 1.3 | Both | No | ND | NR | E2496ELE |
| 7 | M | AD | No | No | No | Yes | No/no | 10.6 | 98.3 | 31.8 | 32.3 | 9.6 | NR | No | No | ND | 126 | E2496ELE |
| 8 | F | AD | Yes | Yes | Yes | Yes | Yes/yes | 10 | 115 | 39.5 | 34.8 | 4.7 | 2.5 | Dec | Yes | Na 48, K 82 | 188 | E2496ELE |
| 9 | F | Unknown | No | No | Yes | Yes | Yes/yes | 9.1 | 125 | 44 | 35 | 8 | 2.4 | No | Na 9.3, K95.1 | 500 | E2496ELE |
AD, autosomal dominant; Dec, decreased; F, female; Hb, hemoglobin; M, male; MCH, mean corpuscular hemoglobin; MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume; ND, not done; NI, normal; NIHF, nonimmune hydrops fetalis; NR, not reported; OF, osmotic fragility; RBC, red blood cell; Retic, reticulocyte; T bili, total bilirubin.
Patient with coinherited β-globin variant. See “Results” for details.