Summary Top of page Summary References Appendices Hereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. It is relatively common in Caucasian populations; most affected individuals have mild or only moderate haemo...
Hereditary spherocytosis (HS), a common form of inherited hemolytic anemia, is a heterogeneous group of disorders with regard to clinical severity, protein defects, and mode of inheritance. Causal mutations in at least five genes have been reported so far. Because multiple genes have been associate...
Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated the patterns of genetic ...
Hereditary elliptocytosis (HE) is a clinically and biochemically heterogenous group of diseases characterized by elliptically shaped erythrocytes and an autosomal dominant mode of inheritance. Whereas the self-association of spectrin het... J Lawler,SC Liu,J Palek,... - 《Journal of Clinical Inves...
Abstract Hereditary spherocytosis (HS), a common form of inherited hemolytic anemia, is a hetero- geneous group of disorders with regard to clinical severity, protein defects, and mode of inheritance. Causal mutations in at least five genes have been reported so far. Because ...
The stomatocyte has a linear slit-like area of central pallor rather than a circular area. When suspended in plasma, the cells assume a bowl-shaped form. This hereditary hemolytic anemia of variable severity is characterized by an autosomal dominant mode of inheritance. There are two forms of...
a. descending or capable of descending to succeeding generations by inheritance b. transmitted or transmissible according to established rules of descent 3. Maths Logic a. (of a set) containing all those elements which have a given relation to any element of the set b. (of a property) ...
Examination of the erythrocyte membrane proteins revealed a deficiency of the major membrane skeletal protein, spectrin (about 75% of normal) which is probably the basic genetic defect of hereditary spherocytosis. Examination of the patient's family revealed a recessive mode of inheritance. The ...
Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha-spectrin gene defects.doi:10.1002/pbc.27480Nidhi BhattJerome M. LoewPatrick GallagherNupur MittalJohn Wiley & Sons, Ltd
Hereditary elliptocytosis (HE) is a clinically and biochemically heterogenous group of diseases characterized by elliptically shaped erythrocytes and an autosomal dominant mode of inheritance. Whereas the self-association of spectrin het... J Lawler,SC Liu,J Palek,... - 《Journal of Clinical Inves...