All three present with hemolysis and anemia, which can vary from mild to severe. [cancertherapyadvisor.com]

Case presentation The proband was a 12-years-old girl presenting with chronic compensated hemolysis, Gilbert syndrome, and recurrent abdominal pain. [ijponline.biomedcentral.com]

Its sequence is known (Stewart et al. 1992), but no mutation is present in the gene in these patients (Wang et al. 1992). [ncbi.nlm.nih.gov]

In a 'recessive', like cystic fibrosis, both genes have to be abnormal for the condition to be present. [ucl.ac.uk]

We present the first case report of hereditary stomatocytosis in a 10-year-old male from the valley of Kashmir. Only eight families with this condition have been described worldwide. [mjdrdypu.org]

Thus, we advise the use of a structured and exhaustive diagnostic workup. [ijponline.biomedcentral.com]

Patients will be seen for a potential maximum of 19 visits in the treatment efficacy phase of the study, with additional phone contacts after the first week of treatment and within a week from each dose escalation. [clinicaltrials.gov]

Anticoagulant treatment should be given, often on a long term basis. [ucl.ac.uk]

Successful treatment of the hypercholesterolaemia did not influence the stomatocytosis. Similar articles [Congenital stomatocytosis with hemolytic anemia--with abnormal cation permeability and defective membrane proteins]. [pubmed.ncbi.nlm.nih.gov]

Magn Reson Chem 40:S147–S152 Article CAS Google Scholar Price-Jones C (1929) Red cell diameters in one hundred healthy persons and in pernicious anæmia: the effect of liver treatment. [link.springer.com]

What should you tell the patient and the family about prognosis? The natural histories of hereditary stomatocytosis and hereditary xerocytosis are not well understood. [cancertherapyadvisor.com]

Although the fluid can cause trouble and much concern, it resolves spontaneously after delivery and carries a good prognosis. [ucl.ac.uk]

The protein defect results from missense mutations in the SLC4A1 gene. [10] Epidemiology Frequency International These hereditary syndromes are extremely rare, and accurate data concerning their prevalence are lacking; however, overall they are thought [emedicine.medscape.com]

The primary defect is in the anion transporter, band 3 (see section on “Pathophysiology”). [cancertherapyadvisor.com]

Pathophysiology of abnormal cell Volume in human red cells. In: Lang F, editor. Cell Volume Regulation. Basel: Karger; 1998. pp. 120–239. [Google Scholar] Glader BE, Fortier N, Albala MM, Nathan DG. [ncbi.nlm.nih.gov]

Our findings also suggest a new role for mechanotransduction in red blood cell biology and pathophysiology. Figures Figure 1. [pubmed.ncbi.nlm.nih.gov]

Hereditary stomatocytosis (also known as hereditary hydrocytosis, or overhydrated stomatocytosis) refers to a heterogeneous group of autosomal dominant hemolytic anemias caused by altered sodium permeability of the RBC membrane. [3] The major pathophysiologic [mjdrdypu.org]

[…] linked to SLC4A1) Nonleaky stomatocytosis with hypercholesterolemia, xanthomas, splenomegaly, and macrothrombocytopenia (severe phytosterolemia linked to ABCG5 or ABCG8) DHSt with transient perinatal edema, including neonatal ascites (linked to PIEZO1) Pathophysiology [emedicine.medscape.com]

For instance, S731P mutation prevents DIDS covalent binding to the exchanger [20]. For the two mutants keeping anion exchange activity, the DIDS sensitivity of the transport is also impaired. [hindawi.com]

The observation of a 3–4 fold increase of unidirectional K+(86Rb+) fluxes in patient II.4 suggests that mutant R352H activate a series of compensatory processes resulting in the prevention of terminal dehydration. [nature.com]

To prevent cation movements through the Na-K-ATPase and the endogenous Na-K-2Cl co-transporter, measurements were done in the presence of their specific inhibitors, ouabain and bumetanide. [haematologica.org]

This is a clinically benign condition but it must be distinguished from true hyperkalemia to prevent inadvertent treatment of patients and potential harm. [cancertherapyadvisor.com]