الفهرس 
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Abstract
Summary
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. G6PD deficiency is an X-linked, hereditary genetic defect due to mutations in the G6PD gene, which cause functional variants with many biochemical and clinical phenotypes. About 140 mutations have been described: most are single base changes, leading to amino acid substitutions.
The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute hemolytic anemia, which is usually triggered by an exogenous agent. Some G6PD variants cause chronic hemolysis, leading to congenital non-spherocytic hemolytic anemia. The most effective management of G6PD deficiency is to prevent hemolysis by avoiding oxidative stress.
This X-linked inherited disorder most commonly affects persons of African, Asian, Mediterranean, or Middle- Eastern descent. Homozygotes and heterozygotes can be symptomatic, although the disease typically is more severe in persons who are homozygous for the deficiency.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzyme disorder of human beings and a globally important cause of neonatal jaundice, which can lead to kernicterus and death or spastic cerebral palsy. It can also lead to life-threatening hemolytic crises in childhood and at later ages, by interacting with specific drugs and with fava beans in the diet. The complications of G6PD deficiency can largely be prevented by education and information.
Our study included 400 children who have been selected randomly from different areas in Beni Suef governorate in the period from April 2015 to March 2016. They have been examined clinically. Out of them we selected pale children who were exposed to investigations. They were 146 pale patients. According to their results they were divided into two groups.
group (A): 32 Cases with G6PD deficiency 24 males and 8 females mean patient age was 5±1.5 days and mean patient weight was 2.6±0.7.
Parental consanguinity was found positive in 18 (56.3%) children, 3 (2.6%) children had family history of G6PD deficiency and 10 (31.3%) children were jaundiced.
History of neonatal jaundice was positive in 25 (78.1%) children.
Among cases, 20 (62.5%) children had history of blood transfusion on top of hemolytic crisis, from them 14 cases (43.8%) received blood once,2 cases (6.3%) received blood twice,3cases (9.4%) received blood 3 times and one case (3.4%) received blood 4times.
Also 2 children (6.3%) had dark urine and one child (3.2%) had splenomegaly.
group (B): 114 Cases without G6PD deficiency 53 males and61 females mean patient age was 5±1.5 days and mean patient weight was 2.6±0.7.
All children in this group had no history of blood transfusion, hemolytic crisis, or dark urine.
Parental consanguinity was found positive in 50 (43.9%) children, 10(31.3%) children had family history of G6PD deficiency and 3 (2.6%) children were jaundiced.
Also 2 children (1.8%) had splenomegaly, 28(24.6%) children had history of neonatal jaundice.
The cases with G6PD deficiency in group (A) were subdivided according to the results into two subgroups:
group (A1): 11 Asymptomatic G6PD deficiency cases 7 males and 4 females, mean patient age was 2.6±0.7 Years and mean patient weight was 12.3±1.4
All children in this group had no history of blood transfusion, hemolytic crisis, or dark urine.
Parental consanguinity was found positive in 6 (54%) children,
Only one child had family history of G6PD deficiency and 2 (18.2%) children were jaundiced.
History of neonatal jaundice was positive in 9 (81.2%) children.
group (A2): 21 previously diagnosed G6pd deficiency cases 17 males and 4 females, mean patient age was 4.0±2.0 Years and mean patient weight was 15.2±4.8
Parental consanguinity was found positive in 12 (57.1%) children, 9 (42.9%) children had family history of G6PD deficiency, and 8 (38.1%) children were jaundiced.
History of neonatal jaundice was positive in 16 (76.2%) children.
Among cases, 20 (95.2%) children had history of blood transfusion on top of hemolytic crisis, from between14cases (66.7%) received blood once, 2 cases (9.5%) received blood twice, 3 cases (14.3%) received blood 3 times and one case (4.8%) received blood 4times.
Also 2 children had dark urine and one child had splenomegaly.
The mean of HB (gm/dl) was 9.2±1.2 in group (A) and 10.3±0.8 in group (B) and there was highly significant difference (P-value 0.0 01) between both groups A and B.
The mean of HCT (Ratio) was 30.6±4.2 in group (A) and 32.6±3.7 in group (B) and there was significant difference (P-value 0.010) between both groups A and B.
The mean of HB (gm/dl) was 9.8±1.1 in group (A1) and 8.9±1.1in group (A2) and there was significant difference (P-value 0.034) between both groups A1 and A2.
The mean of HCT (Ratio) was 31.7±3.7in group (A1) and 30.0±4.4 in group (A2) and there was no significant difference (P-value 0.271) between both groups A1 and A2.
The mean of G6PD level (U/g Hb.)was 3.3±1.2in group (A) and it was 9.8±2.3 in group (B) and there was highly significant difference (P-value 0.001) between both groups A and B.
The mean of G6PD level (U/g Hb.)was 3.8±1.1in group (A1) and it was 3.1±1.2 in group (A2) and there was no significant difference (P-value 0.083) between both groups A1 and A2.