Spectrum of factor VIII mutations in Arab patients with severe haemophilia A

Haemophilia

Volumn 14, Issue 3, 2008, Pages 484-488

  Abu Amero, K K ^a   Hellani, A ^b   Al Mahed, M ^c   Al Sheikh, I ^d  

^a Shafallah Medical Genetics Center   (Qatar)

^b SAAD SPECIALIST HOSPITAL   (Saudi Arabia)

^c Saluq General Hospital   (Syrian Arab Republic)

^d IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Arab; Ffactor VIII gene; Haemophilia A; Intron 22; Mutation; Sequencing

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8C;

ARAB; ARTICLE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CORRELATIONAL STUDY; DISEASE SEVERITY; FAMILY STUDY; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; HEMOPHILIA A; HETEROZYGOSITY; HUMAN; INTRON; MALE; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ARABS; DNA MUTATIONAL ANALYSIS; FACTOR VIII; HEMOPHILIA A; HUMANS; INTRONS; INVERSION, CHROMOSOME; MALE; MIDDLE EAST; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; SEVERITY OF ILLNESS INDEX;

EID: 43149104623     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01690.x     Document Type: Article

References (5)

1. Islam SI, Quadri MI. Spectrum of hereditary coagulation factor deficiencies in eastern province, Saudi Arabia. East Mediterr Health J 1999; 5: 1188-95.
2. Eyster ME, Lewis JH, Shapiro SS et al. The Pennsylvania hemophilia program 1973-1978. Am J Hematol 1980; 9: 277-86.
3. Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998; 92: 1458-9.
4. Yenchitsomanus P, Akkarapatumwong V, Pung-Amritt P et al. Genotype and phenotype of haemophilia A in Thai patients. Haemophilia 2003; 9: 179-86.
5. Antonarakis SE, Kazazian HH, Tuddenham EG. Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat 1995; 5: 1-22.