‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation

Dehydrated hereditary stomatocytosis with transient perinatal ascites.

The case is reported of a mother and baby with dehydrated hereditary stomatocytosis and perinatal ascites, an autosomal dominant condition not previously reported in Britain. Recognition is important for the management of pregnancy and for avoidance of splenectomy which, if performed, can predispose the patient to fatal thromboembolic events.

Hereditary stomatocytosis and Rh-deficient patients exhibit distinct molecular defects.

Dehydrated hereditary stomatocytosis masquerading as MDS.

A 23-year-old man presented to our clinic for a second opinion. He was given the diagnosis of myelodysplastic syndrome (MDS) years prior, based on a history of iron overload and bone marrow biopsy findings of a hypercellular marrow with erythroid hyperplasia and dysmegakaryopoiesis. Further history revealed intermittent jaundice and scleral icterus. His physical examination was notable for shor...

Pulmonary thromboendarterectomy in a case of hereditary stomatocytosis.

We present a case of pulmonary thromboendarterectomy performed successfully in a patient with stomatocytosis. Stomatocytosis is a rare condition of abnormal erythrocyte morphology in which haemolysis and hyperkalaemia occur at cooler temperatures. A 35-yr-old male with stomatocytosis was referred for pulmonary thromboendarterectomy in the context of chronic thromboembolic pulmonary hypertension...

Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia.

genes (genetic heterogeneity). Mapping of the DHSt and FP genes7,9 now allows us to address this problem by means of a linkage analysis. Genomic DNA was obtained from each member of a pedigree described elsewhere.9 Linkage analysis was performed using 8 microsatellite markers (D16S511, D16S3037, D16S520, D16S498, D16S3074, D16S3026, D16S3121) from the chromosome 16 region where we have previous...