الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 127 |  |  |
| | | from | 127 | | |
Abstract
Newborn screening tests look for developmental, genetic and metabolic disorders in newborn baby and do not diagnose illnesses. They show which babies need more testing to confirm or rule out illness & once diagnosed as a diseased, treatment can be started before symptoms appear.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans, affecting 400 million people worldwide. It is an enzyme involved in the production of the reduced form of nicotinamide adenine dinucleotide phosphate (NADPH) which is present in all cells and plays a crucial role in preventing oxidative damage. G6PD is particularly important for red blood cells which are at substantial risk due to their role as oxygen carriers, making them highly vulnerable to oxidative damage.
G6PD is a genetic disorder due to defect of gene (xq28) on x – chromosome that control the production of G6PD in cells causing acute hemolytic anemia under certain conditions.
Mutations in the gene encoding G6PD can lead to complete or partial loss of enzyme activity and G6PD deficiency (G6PDD). Mutation that leads to complete loss of G6PD activity (null mutations) are lethal in the embryo. It has a high prevalence in persons of African, Asian, and Mediterranean descent. It is inherited as an X-linked recessive disorder. G6PD deficiency is polymorphic, with more than 300 variants.
Early screening, detection and treatment of this disease can, in most cases, result in normal growth and development by reducing incidence of neonatal hyperbiliruinemia , kernicterus and hospitalization rate for hemolytic crisis. Our study is the first screening for G6PD deficiency among neonates which done in Menoufia governorate .
This study was conducted on newborns delivered at Menoufia Governorate, one of 28 governorates of Egypt that lies in the center of Nile Delta between the divisions of the Nile river.
In the present study, we used dried blood spot on SS 903filter paper which collected within first week of life between 3-7 days of life in collobration with central laboratories of Ministry of health in which the processing of dried Blood Specimens was done by Collection, Packaging and Storage and our method depends upon fluorometric analysis (WALLAC system, Perkin Elmer).
All specimens were analyzed in our neonatal screening laboratory, genetics and endocrine unit, pediatric department Faculty of medicine Menoufia University . Because of large number of newly born infants the samples were randomly collected . The estimation of this sample size to be representative of whole newborns of west of Menoufia governorate was done by special formula and according to total number of births in five centers of Menoufia Governorate all over the year 2015, It was found that representative samples were 1720.
The assay involved the oxidation of glucose-6-phosphogluconate (6-pg), by the G6PD present in the blood spot sample and the concomitant reduction of NADP to NADPH. The amount of NADPH produced was measured and
the samples were counted for their Hb content. Any neonate with a value ≤1.3 U/g Hb was considered deficiency.
from 1720 screened newborn ,80 showed total deficiency 4.6 % (60 males and 20 females), and 11 newborns (0.63%) showed partial deficiency as compared to the standard references supplied with kits frequency in male newborns was 6.8% (80 out of 872 males) frequency in females 2.3 (20 out of 848 females), with male to female ratio of 3:1.Incidence of G6PD deficiency was significantly higher in males in relation to female newborn with p-value <0. 05.
So the study revealed that the frequency of G6PD deficiency in west of Menoufia Governorate was 4.6 % ,and frequency in males was 6,8 % ,females was 3.2 % and male to female ratio about 3:1 which meaning the most of G6PD-deficient neonates were male and these findings indicated male -dominated prevalence of G6PD deficiency ,supported the mode of inheritance of G6PD deficiency which is sex –linked disease.
Our finding is compared with previous reports in Egypt, It was provided that the general prevelance of G6PD deficiency in Egypt was 5.9% but WHO reported a higher frequency of 7-9.9%.There is a great variation in incidence of G6PD deficiency in some localities in Egypt. In El Shatby Neonatal care Unit; Alexandria,the reported frequency of G6PD deficiency was 9.8 % and in Tanta was 12% , Middle Delta G6PD deficiency was 11% , Mansoura was 11% . Settin et al., reported a frequency of G6PD among jaundiced Egyptian neonates in Dakahlia province as 11.4% which is higher than other parts of Egypt.