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
  • [21] ERYTHROCYTE-MEMBRANE PROTEIN ALTERATIONS UNDERLYING CLINICAL HETEROGENEITY IN HEREDITARY SPHEROCYTOSIS
    DELGIUDICE, EM
    IOLASCON, A
    PINTO, L
    NOBILI, B
    PERROTTA, S
    BRITISH JOURNAL OF HAEMATOLOGY, 1994, 88 (01) : 52 - 55
  • [22] RED-CELL MEMBRANE-PROTEIN ABNORMALITIES IN HEREDITARY SPHEROCYTOSIS IN BRAZIL
    SAAD, STO
    COSTA, FF
    VICENTIM, DL
    SALLES, TSI
    PRANKE, PHL
    BRITISH JOURNAL OF HAEMATOLOGY, 1994, 88 (02) : 295 - 299
  • [23] INCREASED MEMBRANE-PROTEIN METHYLATION IN HEREDITARY SPHEROCYTOSIS - A MARKER OF CYTOSKELETAL DISARRAY
    INGROSSO, D
    DANGELO, S
    PERNA, AF
    IOLASCON, A
    DELGIUDICE, EM
    PERROTTA, S
    ZAPPIA, V
    GALLETTI, P
    EUROPEAN JOURNAL OF BIOCHEMISTRY, 1995, 228 (03): : 894 - 898
  • [24] ANALYSIS OF RED BLOOD CELL MEMBRANE SURFACE PROTEIN EXPRESSION IN HEREDITARY SPHEROCYTOSIS
    Huisjes, Rick
    Satchwell, Tim J.
    Verhagen, Liesbeth P.
    Schiffelers, Raymond M.
    van Solinge, Wouter W.
    Toye, Ashley M.
    van Wijk, Richard
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2018, 40 : 59 - 59
  • [25] ALTERED ERYTHROCYTE-MEMBRANE PROTEIN-PHOSPHORYLATION IN AN UNUSUAL CASE OF HEREDITARY SPHEROCYTOSIS
    BOIVIN, P
    DELAUNAY, J
    GALAND, C
    SCANDINAVIAN JOURNAL OF HAEMATOLOGY, 1979, 23 (03): : 251 - 255
  • [26] STRUCTURAL VARIANT OF THE MAJOR ERYTHROCYTE-MEMBRANE PROTEIN FOUND IN A PATIENT WITH HEREDITARY SPHEROCYTOSIS
    IMAMURA, T
    MATSUO, T
    SUMIDA, I
    KAGIYAMA, S
    YANASE, T
    JAPANESE JOURNAL OF HUMAN GENETICS, 1979, 24 (03): : 229 - 230
  • [27] Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid β-spectrin structure, and function in red cell morphogenesis and membrane stability
    Liao, EC
    Paw, BH
    Peters, LL
    Zapata, A
    Pratt, SJ
    Do, CP
    Lieschke, G
    Zon, LI
    DEVELOPMENT, 2000, 127 (23): : 5123 - 5132
  • [28] Erythrocyte membrane protein analysis by an automated capillary electrophoresis system in the diagnosis of hereditary spherocytosis
    Heinrichs, A.
    Lazarova, E.
    Boutique, C.
    Gulbis, B.
    ACTA CLINICA BELGICA, 2014, 69 : 19 - 19
  • [29] Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants
    Cheng, Jingying
    Zhang, Liqiang
    Yao, Jiafeng
    Zhao, Shasha
    Jiang, Jin
    FRONTIERS IN PEDIATRICS, 2025, 13
  • [30] DOMINANT HEREDITARY SPHEROCYTOSIS (HS) IS LINKED TO THE GENE FOR THE ERYTHROCYTE-MEMBRANE PROTEIN ANKYRIN
    FORGET, BG
    LUX, SE
    AGRE, P
    WATKINS, PC
    JOHN, K
    COSTA, FF
    CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 999 - 999