منابع مشابه
Red cell membrane disorders.
Disorders of the erythrocyte membrane, including hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, and hereditary stomatocytosis, comprise an important group of inherited hemolytic anemias. These syndromes are characterized by marked clinical and laboratory heterogeneity. Recent molecular studies have revealed that there is also significant genetic heterogeneit...
متن کاملDisorders of red cell membrane.
Studies during the last three decades have enabled the development of detailed molecular insights into the structural basis of altered function in various inherited red cell membrane disorders. This review highlights our current understanding of molecular and mechanistic insights into various inherited red cell membrane disorders involving either altered membrane structural organization (heredi...
متن کاملHereditary red cell membrane disorders and laboratory diagnostic testing.
This overview describes two groups of nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) represent disorders of the red cell cytoskeleton. Hereditary stomatocytoses represents disorders of cation permeability in th...
متن کاملThe molecular basis of disorders of the red cell membrane.
Haemolytic anaemia denotes a state in which there is an increased rate of red cell destruction. It can be classified on the basis of whether the defect is intrinsic to the red cell or extrinsic to the red cell (that is, a problem in the surrounding environment). Intrinsic defects include defects in the red cell membrane, defects in the red cell enzymes, and defects in globin structure and synth...
متن کاملHereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.
Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cel...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Journal of Laboratory Hematology
سال: 2017
ISSN: 1751-5521
DOI: 10.1111/ijlh.12657