RAPID COMMUNICATION Combined Spectrin and Ankyrin Deficiency Is Common in Autosomal Dominant Hereditary Spherocytosis
نویسندگان
چکیده
The common autosomal dominant form of hereditary spherocytosis (HS) has been genetically linked to defects of the erythroid ankyrin gene in a few families; however, the frequency of ankyrin deficiency and its relationship to red blood cell (RBC) spectrin content are unknown. To test these questions, we measured RBC spectrin and ankyrin by radioimmunoassay in 39 patients from 20 families with dominant HS. Normal RBCs contained 242,000 f 20,500 spectrin heterodimers and 124,500 f 1 1,000 ankyrins per cell. In dominant HS, RBC spectrin and ankyrin ranged from about 40% to 100% of normal and were continuously distributed. Measurements in the same patient on different occasions were reproducible ( f 5% to 10%) and RBCs from affected members of a kindred contained similar
منابع مشابه
Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis.
The common autosomal dominant form of hereditary spherocytosis (HS) has been genetically linked to defects of the erythroid ankyrin gene in a few families; however, the frequency of ankyrin deficiency and its relationship to red blood cell (RBC) spectrin content are unknown. To test these questions, we measured RBC spectrin and ankyrin by radioimmunoassay in 39 patients from 20 families with do...
متن کاملRed 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 کاملMolecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin.
While varying degrees of spectrin deficiency have been found in the majority of patients with hereditary spherocytosis (HS), a combined severe deficiency of both spectrin and the spectrin-binding protein, ankyrin, has been reported only in two patients with severe HS. To elucidate the molecular basis of these protein deficiencies, we have studied the synthesis, assembly, and the mRNA levels of ...
متن کاملAbnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis.
Hereditary spherocytosis (HS) is a common inherited erythrocyte membrane disorder characterized by chronic hemolytic anemia. Clinical manifestations and biochemical abnormalities of HS are heterogeneous. In this study, we investigated erythrocyte membrane protein defects in 27 Korean HS cases. Utilizing both the Fairbanks system and the Laemmli system, sodium dodecyl sulfate polyacrylamide gel ...
متن کاملSevere nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia in people of North European ancestry, although people of every ethnic background are affected. Inheritance is autosomal dominant in approximately two-thirds of cases, the remaining cases represent autosomal recessive inheritance or de novo mutations, as shown in a survey of Italian HS patients with hematologically norma...
متن کامل