Abstract:
:This report concerns congenitally Na(+)-K(+) leaky red cells of the 'hereditary stomatocytosis' class. Three new isolated cases and one new pedigree are described, and one previously reported case is expanded. In all cases, Western blotting of red cell membranes revealed a deficiency in the 32 kDa membrane protein, stomatin. All showed pronounced cation leaks at 37 degrees C with markedly abnormal intracellular Na(+) and K(+) concentrations, like all other such stomatin-deficient cases. Consistent with recent findings in two previously described British pedigrees, immunocytochemistry demonstrated that the deficiency of stomatin was not complete. On typical blood films, some red cells showed positive stomatin immunoreactivity, while most were negative, although in one case only a minority were negative. All platelets and neutrophils were stomatin positive. The cases differed markedly between themselves with regard to the temperature dependence of the passive leak to K(+). Three showed a simple monotonic temperature dependence, while two showed a minimum at around 20-25 degrees C, such that the cells were extremely leaky at 0 degrees C, giving the phenotype known as 'cryohydrocytosis'. These patients are the only two known cases of stomatin-deficient cryohydrocytosis. Both showed a congenital syndrome of mental retardation, seizures, cataracts and massive hepatosplenomegaly, probably defining a new haemato-neurological syndrome.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Fricke B,Jarvis HG,Reid CD,Aguilar-Martinez P,Robert A,Quittet P,Chetty M,Pizzey A,Cynober T,Lande WF,Mentzer WC,Düring M,Winter S,Delaunay J,Stewart GWdoi
10.1111/j.1365-2141.2004.04965.xsubject
Has Abstractpub_date
2004-06-01 00:00:00pages
796-803issue
6eissn
0007-1048issn
1365-2141pii
BJH4965journal_volume
125pub_type
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