Table 1 Clinical and genetic features of proband D, proband W and their immediate family members
proband D before splenectomy | proband D after splenectomy | proband D’s father | proband D’s mother | proband W before splenectomy | proband W after splenectomy | proband W’s father | proband W’s mother | proband W’s brother | |
|---|---|---|---|---|---|---|---|---|---|
Age (Y) | 25 | 26 | 50 | 49 | 20 | 24 | 48 | 48 | 18 |
Sex | M | M | M | F | F | F | M | F | M |
Spleen (mm below rib) | 60 | / | Not palpable | Not palpable | 100 | / | Not palpable | 32 | 27 |
Cholelithiasis | Y | / | N | N | Y | / | N | N | N |
HBV carrier | Y | Y | Y | N | N | N | N | NA | N |
HB (g/l) | 125 | 181 | 152 | 125 | 114 | 163 | 159 | 114 | 150 |
MCV (fl) | 85.7 | 83.7 | 88.7 | 91.4 | 79.8 | 88.4 | 91.2 | 84.7 | 92.5 |
MCH (pg) | 28.4 | 27.1 | 29.2 | 29.9 | 29.9 | 32.0 | 31.2 | 30.1 | 33.0 |
MCHC (g/l) | 332 | 323 | 329 | 327 | 374 | 364 | 343 | 355 | 356 |
Ret (×1012/l) | 0.334 | NA | 0.084 | 0.061 | 0.373 | 0.081 | 0.138 | 0.145 | 0.188 |
Spherocyte (%) | 13.6 | NA | 8 | 1 | 15 | 30 | 10 | 19.6 | 18 |
TBIL (μmol/l) | 73.1 | 19.1 | 12.8 | 7.6 | 74.0 | 27.3 | 19.3 | 31.7 | 29.2 |
DBIL (μmol/l) | 7.3 | 8.3 | 4.2 | 2.9 | 19.4 | 7.3 | 5.7 | 12.6 | 12.1 |
LDH (U/l) | 224.9 | NA | 239 | 171.9 | 226.4 | 869.9 | 254.4 | 188.7 | 307.4 |
SPTB c.4873 C > T p.R1625X | Y | N | N | N | N | N | N | ||
SLC4A1 c.1469G > A p. R490H | N | N | N | Y | N | Y | Y |