
pmid: 19817879
Summary. Haemophilia A (HA) is an X‐linked recessive bleeding disorder caused by mutations in the factor VIII gene (F8), which encodes factor VIII (FVIII) protein, a plasma glycoprotein, that plays an important role in the blood coagulation cascade. In the present study, our aim was to identify F8 gene mutations in HA patients from Jordan. One hundred and seventy‐five HA patients from 42 unrelated families were included in this study. Among these patients, 117 (67%) had severe HA, 13 (7%) had moderate HA and 45 (26%) had mild HA. Severe patients were first tested for intron‐22 inversion using long range polymerase chain reaction (PCR), then negative patients were tested for intron‐1 inversion using PCR. Sequencing for the entire F8 gene was performed for all severe HA patients who were found negative for intron‐22 and ‐1 inversions and it was also performed for moderate and mild HA patients. HA causative mutations were identified in all patients. Intron‐22 and ‐1 inversions were detected in 52% and 2% of families respectively. Beside these two mutations, 19 different mutations were identified, which include 15 missense and four frameshift mutations. Five novel mutations were identified including one frameshift and four missense mutations. No large deletions or nonsense mutations were detected in patients who participated in this study. Only 17 patients with severe HA were found positive for FVIII inhibitors. The data presented will play an important role for genetic counselling and health care of HA patients in Jordan.
Adult, Male, Factor VIII, Jordan, Adolescent, Blood Coagulation Factor Inhibitors, DNA Mutational Analysis, Infant, Newborn, Mutation, Missense, Infant, Sequence Analysis, DNA, Middle Aged, Hemophilia A, Polymerase Chain Reaction, Introns, Child, Preschool, Mutation, Humans, Child, Frameshift Mutation
Adult, Male, Factor VIII, Jordan, Adolescent, Blood Coagulation Factor Inhibitors, DNA Mutational Analysis, Infant, Newborn, Mutation, Missense, Infant, Sequence Analysis, DNA, Middle Aged, Hemophilia A, Polymerase Chain Reaction, Introns, Child, Preschool, Mutation, Humans, Child, Frameshift Mutation
| selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 15 | |
| popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Top 10% | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Average |
