Mutations of the red blood cell membrane proteins: from clinical evaluation to detection of the underlying genetic defect.
نویسندگان
چکیده
E V E W RECENT publications have reviewed the S principal structural features of the membrane proteins, the organization of their genes, and the recently described membrane protein The objective of this review is to apply this rapidly expanding knowledge to the understanding of the pathobiology of red blood cell (RBC) lesions and the detection of the underlying membrane protein defects in inherited disorders of the RBC membrane proteins.
منابع مشابه
Red cell membrane protein abnormalities as defined by sds-page among patients with anaemia in a west african region hospital practice
Background: Erythrocytes require an ability to deform and to withstand shear stress while negotiating the microcirculation. These properties are largely due to their excess surface area per volume and the characteristics of the membrane’s protein. Deficiencies of these proteins are associated with chronic haemolysis. Methods: This was a cross sectional study aimed at determining the prevalenc...
متن کاملProteases Detection of invitro Culture of Midgut Cells from Hyalomma anatolicum anatolicum (Acari: Ixodidae)
Proteases play a key role in protein digestion in ticks and other haematophagous insects. Our understanding of blood meal digestion in digestive system of ticks can be very useful for better understanding of basic rules for control of ticks. Cells of the midgut endocytose blood components. Blood proteins uptake by midgut cells, suggesting the presence of proteases in the midgut cells. In this...
متن کاملEvaluation of Twenty Four Discriminant Indices for Differentiating Beta-Thalassemia Trait from Iron Deficiency Anemia in Egyptians
Background: Many Red Blood Cell (RBC) indices have been developed based on mathematical formulae to discriminate beta-thalassemia trait (βTT) from iron deficiency anemia (IDA). The latter two conditions represent the most common causes of microcytic hypochromic anemia in Egypt. This study aimed To evaluate the diagnostic reliability of 24 published discriminant indices for differentiating βTT f...
متن کاملDeficient Expression of Bruton's Tyrosine Kinase in Monocytes from X-Linked Agammaglobulinemia as Evaluated by a Flow Cytometric Analysis and its Clinical Application to Carrier Detection
Background: The B-cell defect in X-linked agammaglobulinemia (XLA) is caused by mutations in the gene for Bruton's tyrosine kinase (BTK). BTK mutations result in deficient expression of BTK protein in peripheral blood monocytes. Methods: Using the anti-BTK monoclonal antibody (48-2H), a flow cytometric analysis of intra cytoplasmic BTK protein expression in monocytes was performed to identify I...
متن کاملNo mutations of FecB and FecGH in Iranian Lory sheep
The Booroola fecundity gene (FecB) and growth differentiation factor 9 (GDF9) gene belong to the transforming growth factor β (TGF-β) superfamily. The mutations of these genes have additive effects on the prolificacy in sheep. The aim of the present study was to determine the possible mutations of FecB and FecGH genes in Lory sheep breed of the Lorestan province, Iran. Sixty...
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:
- Blood
دوره 80 2 شماره
صفحات -
تاریخ انتشار 1992