Ankyrin-linked hereditary spherocytosis in an African-American kindred
نویسندگان
چکیده
منابع مشابه
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude.
percentage of senescent cells in the dense fraction than do Percoll gradients. In summary, these results confirm that the #1% most dense RBC from dogs represent a predominantly aged population of cells. Labeling a cohort of young cells further enhances the enrichment for old RBC in this fraction. To the extent that canine RBC serve as an accurate model for human RBC, it can be concluded that th...
متن کاملErythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression.
Ankyrin defects are the most common cause of hereditary spherocytosis (HS). In several kindreds with recessive, ankyrin-deficient HS, mutations have been identified in the ankyrin promoter that have been proposed to decrease ankyrin synthesis. We analyzed the effects of two mutations, -108T to C and -108T to C in cis with -153G to A, on ankyrin expression. No difference between wild type and mu...
متن کاملRed cell abnormalities in a kindred with an uncommon form of hereditary spherocytosis.
Red cell acetylcholinesterase (AChE) and Na, + K ~adenosinetriphosphatase (ATPase) activities, cell 2,3 diphosphoglycerate (2,3 DPG) and adenosinetriphosphate (ATP) content and filterability ratio were studied in two children (with moderate hemolytic anemia and marked spherocytosis) and their parents. Patients’ parents have no medical problem but evidenced discrete spherocytosis on peripheral s...
متن کاملGenetic counseling communication with an African American BRCA1 kindred.
We studied communication in genetic counseling sessions conducted with an African American, Breast Cancer 1, Early Onset (BRCA1) kindred in the USA. The Roter Interaction Analysis System (RIAS) was used to code and compare two sessions of 46 participants (26 females and 20 males) before and after they underwent genetic testing. Three certified genetic counselors and one medical geneticist condu...
متن کاملHereditary spherocytosis.
Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia. Some individuals are asymptomatic, whereas others have severe haemolytic...
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: American Journal of Hematology
سال: 2008
ISSN: 0361-8609,1096-8652
DOI: 10.1002/ajh.21254