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Objective: To evaluate the G6PD(C563T) Mediterranean mutation among Jordanian females who were admitted to Princess Rahma Teaching Hospital (PRTH) with/or previous history of favism., Study Design: A descriptive study., Place and Duration of Study: Jordanian University of Science and Technology and PRTH, from October 2003 to October 2004., Methodology: After obtaining approval from the Ethics Committee of Jordanian University of Science and Technology, a total of 32 females were included in this study. Samples from 15 healthy individual females were used as a negative control. Blood samples from these patients were collected and analyzed by allele-specific polymerase chain reaction (AS-PCR) to determine the G6PD(C563T) mutation., Results: Twenty one out of 32 patients were found to be G6PD(C563T) Mediterranean mutation (65.6%) positive. Three out of 21 patients were homozygous and remaining 18 were heterozygous for G6PD(C563T) Mediterranean mutation. Eleven (34.4%) out of 32 patients were found to be negative for G6PD(C563T) mutation indicating the presence of other G6PD mutations in the study sample., Conclusion: G6PD(C563T) Mediterranean mutation accounted for 65.6% of the study sample with favism in the North of Jordan. There is likely to be another G6PD deficiency variant implicated in acute hemolytic crisis (favism).

Background and Objectives: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic enzymatic disorder that affects millions of people worldwide, and is a major health problem in Jordan. We studied factors that may predict severe hemolysis in children with G6PD deficiency., Methods: We reviewed the records of patients with low G6PD activity admitted to a teaching hospital be- tween 1996 to 2007. We collected demographic data, details of sign and symptoms, history and type of fava bean ingestion, blood and Rh group, history of neonatal jaundice, history and type of drug use, abdominal pain at admission and the results of tests for hemoglobin, white blood cells (WBC), and hepatic function. We classified patients into mild and severe groups based on hemoglobin levels at admission., Results: Of 428 children with G6PD deficiency, 79 (18%) were severe cases and 349 (82%) patients with mild disease. There were no statistically significant differences in most factors between the two groups. Factors that achieved statistical significance for severe hemolysis included younger age (P<.05), male gender (P<.05), higher alkaline phosphatase (ALP) (P<.05), presence of fever at admission (P<.01), presence of vomiting during the at- tack (P=.006), and a negative family history for G6PD deficiency (P=.005)., Conclusions: Severe hemolysis can be predicted during hemolytic episodes in children with low G6PD by young age, male gender, a negative family history of G6PD deficiency, the presence of fever and vomiting and a high ALP.

The effectiveness of desferrioxamine (DFO) in ameliorating the severity of the acute haemolysis of glucose-6-phosphate dehydrogenase (G6PD) deficiency was studied in 167 children with G6PD deficiency during an acute haemolytic crisis. All patients received packed cell transfusion on admission if their Hb levels were <8 g/dl, which was repeated as needed. Eighty patients also received a single dose of DFO 30-40 mg/kg by slow intravenous infusion (DFO group). The remaining 87 children did not receive DFO (control group). The need for more than one transfusion was less frequent in the DFO group as compared to the control group (p = 0. 01). The need for late transfusion (transfusion after 36 h of admission) was also less in the DFO group (7%) compared to 21% in the control group (p = 0.02). On average, children in the DFO group needed less packed red blood cells (16.5 ml/kg body weight) than the control group (22.8 ml/kg body weight) and the difference was highly significant (p = 0.0001). We conclude from this study that DFO in a small dose is effective in the treatment of acute haemolytic crises of G6PD deficiency. It shortens the duration of the crisis and decreases the amount of blood transfusion needed.