Molecular genetics and transfusion management in a child with Bernard Soulier syndrome

Blood Coagulation and Fibrinolysis

Volumn 17, Issue 5, 2006, Pages 409-411

  Bowers, Margaret J ^a   Orr, Nick J ^b   Dempsey, S I ^c   Alexander, H Denis ^b  

^a ULSTER HOSPITAL   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

^c ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Bernard Soulier syndrome; Genetic mutation; Transfusion

Indexed keywords

GENOMIC DNA; GLYCOPROTEIN IB; GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; HEMOGLOBIN; MESSENGER RNA; VON WILLEBRAND FACTOR;

ARTICLE; BERNARD SOULIER DISEASE; BLEEDING; BLOOD TRANSFUSION; CASE REPORT; CLINICAL FEATURE; FLOW CYTOMETRY; GENE MUTATION; HEMOGLOBIN BLOOD LEVEL; HEMOSTASIS; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; THROMBOCYTE COUNT;

BERNARD-SOULIER SYNDROME; CHILD; FLOW CYTOMETRY; GENE DELETION; GENE THERAPY; HUMANS; MALE; PLATELET MEMBRANE GLYCOPROTEINS; PLATELET TRANSFUSION; POINT MUTATION;

EID: 33745431703     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mbc.0000233372.33852.12     Document Type: Article

References (14)

1. Poujol C, Ware J, Nieswandt B, Nurden AT, Nurden P. Absence of GPIbalpha is responsible for aberrant membrane development during megakaryocyte maturation: ultrastructural study using a transgenic model. Exp Hematol 2002; 30:352-360.
2. Wenger RH, Kieffer N, Wicki AN, Clemetson KJ. Structure of the human blood platelet membrane glycoprotein 1b alpha gene. Biochem Biophys Res Commun 1988; 156:389-395.
3. Lanza F, Morales M, De La Salle C, Cazenave JP, Clemetson KJ, Shimomura T, Phillips DR. Cloning and characterization of the gene encoding the human platelet glycoprotein V. A member of the leucine-rich glycoprotein family cleaved during thrombin-induced platelet activation. J Biol Chem 1993; 268:20801-20807.
4. Hickey MJ, Roth GJ. Characterization of the gene encoding human platelet glycoprotein IX. J Biol Chem 1993; 268:3438-3443.
5. Yagi M, Edelhoff S, Disteche CM, Roth GJ. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. J Biol Chem 1994; 269:17424-17427.
6. Lemarchandel V, Ghysdael J, Mignotte V, Rahuel C, Romeo PH. GATA and Ets cis-acting sequences mediate megakaryocyte-specific expression. Mol Cell Biol 1993; 13:668-676.
7. Miller JL, Lyle VA, Cunningham D. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. Blood 1992; 79:439-446.
8. Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001; 97:1330-1335.
9. NCBI Entrez Nucleotide database. http://www.ncbi.nlm.nih.gov/entrez. [Accessed 11 August 2005].
10. Kunishima S, Kamiya T, Saito H. Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol 2002; 76:319-327.
11. Lykke-Andersen J, Shu MD, Steitz JA. Communication of the position of the exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science 2001; 293:1836-1839.
12. Ware J, Russell SR, Vicente V, Scharf RE, Tomer A, McMillan R, Ruggeri ZM. Nonsense mutation in the glycoprotein Ibα coding sequence associated with Bernard-Soulier syndrome. Proc Natl Acad Sci USA 1990; 87:2026-2030.
13. Kicker TS. The challenge of platelet alloimmunisation management and prevention. Transfus Med Rev 1990; 4 (Suppl 1):8-18.
14. Murphy MF, Waters AH. Platelet transfusions, the problem of refractoriness. Blood Rev 1990; 4:16-24.