Study of mutations in Jordanian patients with haemophilia A: identification of five novel mutations.

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.

Arteriovenous fistula in chronic renal failure patients: comparison between three different anesthetic techniques.

The creation of arteriovenous fistula is an established form of therapy for patients with chronic renal failure. Anesthetic management in such patients is governed by the presence of risk factors such as hypertension, ischemic heart disease, diabetes, chronic pulmonary disease, anemia, coagulopathy, metabolic acidosis and/or hyperkalemia. In an attempt to improve the quality of anesthetic care and outcome we designed the present study to compare the different anesthetic techniques which are used for creation of arteriovenous fistula. Retrospectively we reviewed 164 patients who underwent creation of arteriovenous fistula. We retrieved the data concerning the age, sex, ASA class, and coexisting diseases. The patients were classified into three groups depending on the anesthetic technique received. Group A (n = 48) patients received general anesthesia; group B (n = 39), patients received brachial plexus block and group C (n = 77), patients received local infiltration anesthesia. Chi-square test was used to compare between the percentages among the different groups. The percentages of cardiac patients showed significant differences between groups A and B and also between groups A and C. There was a significant difference between the groups A and B also between the groups A and C but not between groups B and C concerning age. ASA classes were not significantly different among the groups. Among the total number of patients, 34 were diabetics and 75 patients were cardiac. Axillary brachial plexus block was complete in 70% of patients and incomplete in 27% and failed in 3% of patients. We conclude that chronic renal failure patients are at increased risk during anesthesia. We conclude that brachial plexus blockade or local anesthetic infiltration are good alternatives to general anesthesia in these patients undergoing creation of arteriovenous fistula. Age, ASA class and cardiac status were the three determining factors for the choice of the anesthetic technique. Further multivariate prospective study are needed to confirm these results.