Erythroid membrane protein defects in hereditary spherocytosis. A study of 62 Spanish cases

被引:0
|
作者
Ricard, MP
Gilsanz, F
Millan, I
机构
[1] Hosp 12 Octubre, E-28041 Madrid, Spain
[2] Fdn Hosp Alcorcon, Hematol Lab, Madrid 28922, Spain
[3] Clin Puerta de Hierro, Madrid, Spain
关键词
hereditary spherocytosis; laboratory diagnosis; spectrin deficiency; ankyrin deficiency; prevalence;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We studied the relative prevalences of erythroid cytoskeletal protein defects and their relationship with the clinical course of hereditary spherocytosis (HS) in 62 Spanish patients (30 kindreds), 53 cases with familial history (21 kindreds).(1-5) Combined spectrin and ankyrin deficiency was the most prevalent abnormality, as previously described.(2,9,10)
引用
收藏
页码:994 / 995
页数:2
相关论文
共 50 条
  • [31] HEREDITARY SPHEROCYTOSIS ASSOCIATED WITH A VARIANT OF BAND-3 PROTEIN IN THE ERYTHROCYTE-MEMBRANE
    IMAMURA, T
    MATSUO, T
    YANASE, T
    KAGIYAMA, S
    JAPANESE JOURNAL OF MEDICINE, 1984, 23 (03) : 216 - 219
  • [32] LINKAGE OF DOMINANT HEREDITARY SPHEROCYTOSIS TO THE GENE FOR THE ERYTHROCYTE MEMBRANE-SKELETON PROTEIN ANKYRIN
    COSTA, FF
    AGRE, P
    WATKINS, PC
    WINKELMANN, JC
    TANG, TK
    JOHN, KM
    LUX, SE
    FORGET, BG
    NEW ENGLAND JOURNAL OF MEDICINE, 1990, 323 (15): : 1046 - 1050
  • [33] ATP DEPENDENT PHOSPHORYLATION OF A MEMBRANE PROTEIN IN NORMAL AND HEREDITARY SPHEROCYTOSIS RED-CELLS
    GREENQUIST, A
    SHOHET, SB
    BLOOD, 1973, 42 (06) : 997 - 997
  • [34] Clinical and hematological features of Hereditary Spherocytosis as a function of the type of the membrane protein defect.
    Mariani, M
    Vercellati, C
    Zappa, M
    Morandi, P
    Boschetti, C
    Zanella, A
    BLOOD, 2000, 96 (11) : 6B - 7B
  • [35] MEMBRANE-PROTEIN PHOSPHORYLATION AND PROTEIN-KINASES IN NORMAL AND HEREDITARY SPHEROCYTOSIS RED-CELLS
    YAWATA, Y
    KORESAWA, S
    MIYASHIMA, K
    HEMOGLOBIN, 1980, 4 (5-6) : 717 - 734
  • [36] Red cell membrane defects and inheritance in 20 Egyptian families with hereditary spherocytosis: Correlation with clinical severity
    Rizk, S.H.
    Ibrahim, A.M.
    Gafaar, T.M.
    Kaddah, N.A.H.
    El-Shafee, S.M.
    Cell Vision: Journal of Analytical Morphology, 1996, 3 (02):
  • [37] RED-CELL MEMBRANE PROTEIN ELECTROPHORETIC PATTERNS IN HEREDITARY SPHEROCYTOSIS AND AUTOIMMUNE HEMOLYTIC ANEMIA
    GOMPERTS, ED
    ZAIL, SS
    SOUTH AFRICAN MEDICAL JOURNAL, 1972, 46 (24): : 821 - &
  • [38] Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese Hereditary Spherocytosis patients
    Rocha, Susana
    Costa, Elisio
    Rocha-Pereira, Petronila
    Ferreira, Fatima
    Cleto, Esmeralda
    Barbot, Jose
    Quintanilha, Alexandre
    Belo, Luis
    Santos-Silva, Alice
    BRITISH JOURNAL OF HAEMATOLOGY, 2010, 149 (05) : 785 - 794
  • [39] PARTIAL CHARACTERIZATION OF CYTOSOL AND MEMBRANE-BOUND PROTEIN-KINASES IN HEREDITARY SPHEROCYTOSIS ERYTHROCYTES
    MICHIELIN, E
    CLARI, G
    FALEZZA, GC
    CLINICA CHIMICA ACTA, 1979, 92 (01) : 41 - 44
  • [40] DETECTION OF ERYTHROCYTE-MEMBRANE PROTEIN ALTERATIONS IN HEREDITARY SPHEROCYTOSIS THROUGH THE USE OF THERMAL-STRESS - A SPIN LABEL STUDY
    FUNG, LWM
    OSTROWSKI, MS
    MEENA, WA
    SARNAIK, S
    LIFE SCIENCES, 1981, 29 (20) : 2071 - 2079