نتایج جستجو برای: hereditary spherocytosis
تعداد نتایج: 84467 فیلتر نتایج به سال:
There is some question about the relationship between hereditary spherocytosis (HS) and pulmonary arterial hypertension, even associated with splenectomy. The finding of BMPR2 mutations in our patient suggests that other factors are necessary for the development of the disease, and perhaps, the incidence of pulmonary hypertension is not increased in patients with HS.
Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.
Two unrelated patients with hereditary spherocytosis developed idiopathic spinal cord dysfunction. This coincidence, combined with similar individual case reports in the older European literature, suggests that abnormalities may exist in constituents common to red cell membranes and nerve tissue. A similar conclusion has been proposed to explain red cell membrane abnormalities in some of the mu...
H EREDITARY SPHEROCYTOSIS is characterized by the occurrence of a hemolytic anemia in at least two family members, the presence of spherocytes in the peripheral blood, increased osmotic fragilities of fresh and incubated blood, an increased autohemolysis partially corrected by supplementary glucose and complete clinical remission following splenectomy. Several cases lacking one of these major f...
6. Stewart GW, Corrall RJ, Fyffe JA, Stockdill G, Strong JA. Familial pseudohyperkalaemia. A new syndrome. Lancet 1979; 28:175-7. 7. Carella M, Stewart G, Ajetunmobi JF, et al. A mapping of dehydrated hereditary stomatocytosis (hereditary xerocytosis) locus to chromosome 16 (16q23qter) by genome wide search. Am J Human Genet 1998; 63:810-6. 8. Iolascon A, Stewart G, Ajentoumbi JF, et al. Heredi...
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