Table 1.
Hereditary stomatocytosis pedigrees and other cation-leaky membrane disorders.
| Clinical/hematology | Genetics/biochemistry | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Phenotype | Pedigree | RBC morphology | Thromb. | Lipid | Leak rate | Temp dependence | References | Gene | Genotype | References |
| OHSt 1 | Stockport | Stomatocytes | + | Normal | × 40 | Monotonic | Lock et al., 1961 | RHAG | Phe65Ser | Bruce et al., 2009 |
| OHSt 1 | Albuquerque | Stomatocytes | No splen. | Normal | × 40 | Monotonic | Fricke et al., 2004 | RHAG | Phe65Ser | Bruce et al., 2009 |
| OHSt 1 | Brighton | Stomatocytes (30–40%) | + | × 40 | Monotonic | Meadow, 1967 | RHAG | Phe65Ser | Bruce et al., 2009 | |
| OHSt 1 | Toulouse | Stomatocytes | No splen. | × 40 | Monotonic | Fricke et al., 2004 | RHAG | Phe65Ser | Bruce et al., 2009 | |
| OHSt 1 | Grenoble | Stomatocytes (15–20%) | No splen. | × 40 | Monotonic | Morlé et al., 1989 | RHAG | Phe65Ser | Bruce et al., 2009 | |
| OHSt 1 | Nancy | Stomatocytes (10–20%) | Unknown | × 40 | Monotonic | Bruce et al., 2009 | RHAG | Phe65Ser | Bruce et al., 2009 | |
| OHSt 2 | Harrow | Stomatocytes | No splen. | × 40 | Monotonic | Fricke et al., 2004 | RHAG | Ile61Arg | Bruce et al., 2009 | |
| sdCHC + neuro. | Montpellier | Stomatocytes | No splen. | × 10 | U-shaped | Fricke et al., 2004 | SLC2A1 | Gly286Asp | Flatt et al., 2011 | |
| sdCHC + neuro. | San Francisco | Unknown | No splen. | × 10 | U-shaped | Fricke et al., 2004 | SLC2A1 | ΔIle435/436 | Flatt et al., 2011 | |
| sdCHC + neuro. | n/a | Echinocytes, stomatocytes | No splen. | n.t. | Bawazir et al., 2012 | SLC2A1 | ΔIle435/436 | Bawazir et al., 2012 | ||
| PED + cation leak | n/a | Echinocytes (14–40%) | No splen. | n.t. | Weber et al., 2008 | SLC2A1 | Δ282–285 | Weber et al., 2008 | ||
| CHC | Hemel | Stomatocytes (30%) | − | + ether | × 4 | U-shaped | Coles et al., 1999a | SLC4A1 | Ser731Pro | Bruce et al., 2005 |
| CHC | Watford | Stomatocytes | − | + ether | × 4 | U-shaped | Coles et al., 1999a | SLC4A1 | Ser731Pro | Bruce et al., 2005 |
| CHC | Bushey | Stomatocytes | − | + ether | × 4 | U-shaped | Haines et al., 2001a | SLC4A1 | Ser731Pro | Bruce et al., 2005 |
| CHC | Milton Keynes | No splen. | × 4 | U-shaped | Stewart, 2004 | SLC4A1 | Ser731Pro | Bruce et al., 2005 | ||
| CHC | Hurstpierpoint | Stomatocytes (15–20%) | − | Normal | × 4 | U-shaped | Haines et al., 2001a | SLC4A1 | His734Arg | Bruce et al., 2005 |
| CHC | Zurich | No splen. | × 4 | U-shaped | Stewart, 2004 | SLC4A1 | His734Arg | Bruce et al., 2005 | ||
| CHC | Islington | n.t. | Stewart, 2004 | n.t. | ||||||
| CHC | n/a | Stomatocytes, spherocytes | × 3 | U-shaped | Guizouarn et al., 2011 | SLC4A1 | Ser762Arg | Guizouarn et al., 2011 | ||
| SAO | n/a | Stomatocytic ovalocytes | × 2 | U-shaped | Guizouarn et al., 2011 | SLC4A1 | Δ400–408 | Tanner et al., 1991 | ||
| HS-LTL | Cricklewood | Spherocytes | No splen. | Bruce et al., 2005 | SLC4A1 | Arg760Gln | Bruce et al., 2005 | |||
| HS-LTL | Dagenham | Spherocytes | No splen. | Bruce et al., 2005 | SLC4A1 | Arg760Gln | Bruce et al., 2005 | |||
| HS-LTL | Eastbourne | Spherocytes | + | Gore et al., 2002a | SLC4A1 | Asp705Tyr | Bruce et al., 2005 | |||
| HSt Blackburn | Blackburn | Stomatocytes | + | Normal | × 4 | Shallow slope | Coles et al., 1999b | SLC4A1 | Leu687Pro | Bruce et al., 2005 |
| HSt Blackburn | Darlington | Stomatocytes (5–10%) | + | × 3 | Shallow slope | Gore et al., 2004 | SLC4A1 | Leu687Pro | Bruce et al., 2005 | |
| HSt Blackburn | Bergen | + | × 4 | Shallow slope | Stewart, 2004 | n.t. | ||||
| HSt Blackburn | St. Etienne | + | × 4 | Shallow slope | Stewart, 2004 | n.t. | ||||
| Band 3 New Haven | Patient 1 | Rare stomatocytes | Stewart et al., 2010 | SLC4A1 | Glu758Lys | Stewart et al., 2010 | ||||
| Band 3 New Haven | Patient 2 | Mild anisocytosis | Stewart et al., 2010 | SLC4A1 | Glu758Lys | Stewart et al., 2010 | ||||
| HSt variant | Stanford | Normal, rare stomatocytes | Unknown | × 6 | Stewart et al., 2011 | SLC4A1 | Arg730Cys | Stewart et al., 2011 | ||
| Band 3 Ceinge + dyseryth. | Ceinge | Anisopoikilocytosis | Iolascon et al., 2009 | SLC4A1 | Gly796Arg | Iolascon et al., 2009 | ||||
| FP | Cardiff | Normal | No splen. | + ether | × 1 | U-shaped | Gore et al., 2002b | ABCB6 | Arg723Gln | Bawazir et al., 2014 |
| FP | Cumbria | Normal | × 1 | U-shaped | Bawazir et al., 2014 | ABCB6 | Arg723Gln | Bawazir et al., 2014 | ||
| FP | Harrow | Normal | × 1 | U-shaped | Bawazir et al., 2014 | ABCB6 | Arg723Gln | Bawazir et al., 2014 | ||
| FP | Cardiff-2 | Andolfo et al., 2016 | ABCB6 | Arg723Gln /Arg276Trp | Andolfo et al., 2016 | |||||
| FP | Bolivian | Andolfo et al., 2016 | ABCB6 | Val454Ala | Andolfo et al., 2016 | |||||
| FP | Lille | Dagher et al., 1989 | ABCB6 | Arg375Gln | Andolfo et al., 2013a | |||||
| FP | Chiswick | Normal | No splen. | Normal | × 1.5 | Shoulder | Haines et al., 2001b | ABCB6 | Arg375Gln | Bawazir et al., 2014 |
| FP | White City | Bawazir et al., 2014 | ABCB6 | Arg375Gln | Bawazir et al., 2014 | |||||
| FP | Falkirk | No splen. | Normal | × 1.5 | Shoulder | Haines et al., 2001a | ABCB6 | Arg375Trp | Andolfo et al., 2013a | |
| FP | Bow | Normal, rare stomatocytes | No splen. | Normal | × 1.5 | Shoulder | Gore et al., 2004 | ABCB6 | Arg375Trp | Andolfo et al., 2013a |
| FP/DHSt | Irish | + | Stewart et al., 1996 | ABCB6 | Arg276Trp | Andolfo et al., 2016 | ||||
| DHSt M'brough | Middlesbrough | Target cells, rare stomatocytes | × 4 | Flat to 30 | Gore et al., 2004 | |||||
| DHSt M'brough | Birmingham | Target cells | × 2 | Flat to 30 | Gore et al., 2004 | |||||
| HSt variant | Woking | Stomatocytes (5–10%) | No splen. | × 4 | Parallel | Jarvis et al., 2001 | ||||
| DHSt + ascites | Bury St. Edmunds | × 2 | Sigmoidal | Stewart, 2004 | ||||||
| DHSt + ascites | Sunderland | Anisocytosis, target cells | No splen. | × 2 | Sigmoidal | Basu et al., 2003 | ||||
| DHSt | Kyoto | Rare stomatocytes | + PC | Imashuku et al., 2016 | FAM38A | Glu2496GluLeuGlu | Imashuku et al., 2016 | |||
| DHSt | Case 1 | Albuisson et al., 2013 | FAM38A | Glu2496GluLeuGlu | Albuisson et al., 2013 | |||||
| DHSt | Case 2 | Albuisson et al., 2013 | FAM38A | Glu2496GluLeuGlu | Albuisson et al., 2013 | |||||
| DHSt | Case 3 | Albuisson et al., 2013 | FAM38A | Glu2496GluLeuGlu | Albuisson et al., 2013 | |||||
| DHSt | Case 5 | Albuisson et al., 2013 | FAM38A | Glu2496GluLeuGlu | Albuisson et al., 2013 | |||||
| DHSt | Case 6 | Albuisson et al., 2013 | FAM38A | Glu2496GluLeuGlu | Albuisson et al., 2013 | |||||
| DHSt | Case 7 | Albuisson et al., 2013 | FAM38A | Glu2496GluLeuGlu | Albuisson et al., 2013 | |||||
| DHSt + ascites | Vesoul | + | × 2 | Grootenboer et al., 2000 | FAM38A | Glu2496GluLeuGlu | Albuisson et al., 2013 | |||
| DHSt + FP | Family 3 | + | +PC | Carli et al., 2007 | FAM38A | Glu2496GluLeuGlu | Albuisson et al., 2013 | |||
| DHSt + ascites | Patient 6 | No splen | Glogowska et al., 2017 | FAM38A | Glu2496GluLeuGlu | Glogowska et al., 2017 | ||||
| DHSt | Patient 7 | No splen | Glogowska et al., 2017 | FAM38A | Glu2496GluLeuGlu | Glogowska et al., 2017 | ||||
| DHSt + ascites | Patient 8 | + | Glogowska et al., 2017 | FAM38A | Glu2496GluLeuGlu | Glogowska et al., 2017 | ||||
| DHSt | Patient 9 | + | Glogowska et al., 2017 | FAM38A | Glu2496GluLeuGlu | Glogowska et al., 2017 | ||||
| DHSt | Family A (UK) | Schistocytes, rare stomatocytes | Andolfo et al., 2018a | FAM38A | Glu2496GluLeuGlu | Andolfo et al., 2018a | ||||
| DHSt | Family B (Italy) | Schistocytes, rare stomatocytes | Andolfo et al., 2018a | FAM38A | Glu2496GluLeuGlu/Arg1864His | Andolfo et al., 2018a | ||||
| DHSt + FP | Arras | + | Grootenboer et al., 2000 | FAM38A | Arg2488Gln /Gly718Ser | Andolfo et al., 2013b | ||||
| DHSt | Boston | Target cells | Platt et al., 1981 | FAM38A | Arg2488Gln | Archer et al., 2014 | ||||
| DHSt + ascites | Patient 3 | No splen | Glogowska et al., 2017 | FAM38A | Arg2488Gln | Glogowska et al., 2017 | ||||
| DHSt | Canada | Target cells, schistocytes | Houston et al., 2011 | FAM38A | Arg2456His | Zarychanski et al., 2012 Bae et al., 2013 | ||||
| DHSt | San Francisco | Grootenboer et al., 2000 | FAM38A | Arg2456His | Andolfo et al., 2013b; Bae et al., 2013 | |||||
| DHSt | Rosedale | Macrocytes, stomatocytes | Shmukler et al., 2014 | FAM38A | Arg2456His | Shmukler et al., 2014 | ||||
| DHSt | Denmark | Normal | Sandberg et al., 2014 | FAM38A | Arg2456His | Sandberg et al., 2014 | ||||
| DHSt + ascites | Nantes family 1 | Target cells, rare stomatocytes | Beneteau et al., 2014 | FAM38A | Arg2456His | Beneteau et al., 2014 | ||||
| DHSt + ascites | Nantes family 2 | Target cells, rare stomatocytes | Beneteau et al., 2014 | FAM38A | Arg2456His | Beneteau et al., 2014 | ||||
| DHSt | Burnley | No splen. | + PC | × 2 | Parallel | Stewart, 2004 | FAM38A | Arg2456His | Unpublished, LJ Bruce 2018 | |
| DHSt | Nuneaton | + | + PC | × 2 | Parallel | Stewart, 2004 | FAM38A | Arg2456His | Unpublished, LJ Bruce 2018 | |
| DHSt | Patient 4 | No splen | Glogowska et al., 2017 | FAM38A | Arg2302His | Glogowska et al., 2017 | ||||
| DHSt | New York | Stomatocytes (up to 35% hom) | Normal | Miller et al., 1971 | FAM38A | Met2225Arg | Zarychanski et al., 2012; Bae et al., 2013 | |||
| DHSt | Dax | Grootenboer et al., 2000 | FAM38A | 2166-2169delLys | Andolfo et al., 2013b | |||||
| DHSt + FP | Edinburgh | Target cells | No splen. | Normal | × 1.1 | Shallow slope | Stewart and Ellory, 1985 | FAM38A | Thr2127Met | Andolfo et al., 2013b |
| DHSt | Case 8 | Albuisson et al., 2013 | FAM38A | Thr2127Met | Albuisson et al., 2013 | |||||
| DHSt | Patient 2 | No splen | Glogowska et al., 2017 | FAM38A | Arg2088Gly | Glogowska et al., 2017 | ||||
| DHSt + FP | Vanves | Rare stomatocytes | × 1.5 | Grootenboer et al., 2000 | FAM38A | Ala2020Thr | Albuisson et al., 2013 | |||
| DHSt | Essex | Carella et al., 1998 | FAM38A | Ala2020Val/Ser1117Leu | Andolfo et al., 2013b | |||||
| DHSt | Stomatocytes | Paessler and Hartung, 2015 | FAM38A | c.6239_6256dup18 | Paessler and Hartung, 2015 | |||||
| DHSt | Troyes | + | Grootenboer et al., 2000 | FAM38A | Ala2003Asp | Andolfo et al., 2013b | ||||
| DHSt | Patient 1 | No splen | Glogowska et al., 2017 | FAM38A | Arg1943Gln | Glogowska et al., 2017 | ||||
| DHSt | Case 4 | Rare stomatocytes | Syfuss et al., 2006 | FAM38A | Arg1358Pro | Albuisson et al., 2013 | ||||
| DHSt + FP + ascites | Bicetre | Grootenboer et al., 2000 | FAM38A | Arg808Gln/Gly782Ser | Andolfo et al., 2013b | |||||
| DHSt | Italy | Stomatocytes | + | Fermo et al., 2017 | KCNN4 | Arg352His | Rapetti-Mauss et al., 2015 | |||
| DHSt | France | Anisocytosis | Rapetti-Mauss et al., 2015 | KCNN4 | Arg352His | Rapetti-Mauss et al., 2015 | ||||
| DHSt | Poland | Anisocytosis | Rapetti-Mauss et al., 2015 | KCNN4 | Arg352His | Andolfo et al., 2015 | ||||
| DHSt | Naples | Anisopoikilocytosis, stomatocytes | Andolfo et al., 2015 | KCNN4 | Arg352His | Andolfo et al., 2015; Glogowska et al., 2015 | ||||
| DHSt | Worcester | × 3 | Grootenboer et al., 2000 | KCNN4 | Val282Met | Glogowska et al., 2015 | ||||
| DHSt | French/Irish | Target cells, acanthocytes | Glader et al., 1974 | KCNN4 | Val282Glu | Fermo et al., 2017 | ||||