Hereditary spherocytosis associated with a variant of band 3 protein in the erythrocyte membrane.
نویسندگان
چکیده
A 17-year-old woman with hereditary spherocytosis was found to be heterozygous for an unusual variant of the band 3 protein in erythrocyte membranes. The variant had a molecular weight of 95,000 daltons which was larger by about 3,000 daltons than the 92,000 m.w. normal band 3, and was phosphorylated less efficiently when intact cells were incubated with 32P-inorganic phosphate. It is discussed that this variant may affect the integrity of the membrane skeletons.
منابع مشابه
Red Cell Membrane Protein Abnormalities of A Family with Hereditary Spherocytosis in Adana
295 Abstract: To investigate erythrocyte membrane protein abnormalities in Çukurova region we studied a family observed to be hereditary spherocytosis. Diagnosis was made basis of clinical features. By densitometric tracing of SDS-PAGE stained by Coomassie Brillant Blue, we found two spectrin deficiency, one ankyrin deficeiency, two spectrin-band 3 deficiency, one ankyrin-band 3 deficiency and ...
متن کاملNosocomial infections due to enterococci in patients with acute leukemia.
1. Cohen CM, Dotimas E, Korsgren C. Human erythrocyte membrane protein band 4.2 (Pallidin). Semin Hematol 1993; 30: 119-37. 2. Rybicki AC, Schwartz RS, Hustedt EJ, Cobb CE. Increased rotational mobility and extractability of band 3 from protein 4.2-deficient erythrocyte membranes: evidence of a role for protein 4.2 in strengthening the band 3-cytoskeleton linkage. Blood 1996; 88:2745-53. 3. Iol...
متن کاملA nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
We studied a French kindred with typical hereditary spherocytosis (HS). Studies of erythrocytes and erythrocyte membranes from HS individuals revealed abnormal erythrocyte membrane mechanical stability as well as 15-20% deficiency of band 3, the anion transporter. Anion transport studies of red cells from two affected individuals revealed decreased sulfate flux. Nucleotide sequence of cDNA enco...
متن کاملMutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
To elucidate the molecular basis of band 3 deficiency in a recently defined subset of patients with autosomal dominant hereditary spherocytosis (HS), we screened band 3 cDNA for single-strand conformation polymorphism (SSCP). In 5 of 17 (29%) unrelated HS subjects with band 3 deficiency, we detected substitutions R760W, R760Q, R808C, and R870W that were all coinherited with the HS phenotype. Th...
متن کاملCharacterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
Hereditary spherocytosis (HS) is a common hemolytic anemia of variable clinical expression. Pathogenesis of HS has been associated with defects of several red cell membrane proteins including erythroid band 3. We have studied erythrocyte membrane proteins in 166 families with autosomal dominant HS. We have detected relative deficiency of band 3 in 38 kindred (23%). Band 3 deficiency was invaria...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Japanese journal of medicine
دوره 23 3 شماره
صفحات -
تاریخ انتشار 1984