Molecular Characterization of G6PD Deficient Variants in Nineveh Province, Northwestern Iraq

Kashmoola, Muna A.; Eissa, Adil Abozaid; Al-Takay, Dahlia T.; Al-Allawi, Nasir

doi:10.1007/s12288-014-0368-2

Cited by 14 publications

(7 citation statements)

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“…[30][31][32] In our country, G6PD deficiency is a common enzyme deficiency and its prevalence was reported to be ranged from 6 to 15.3% among various ethnic groups in the country. [6][7][8][9][10] Our results of G6PD deficiency of 6% among controls are somewhat lower than previously reported data from the region at 10.9%, 6 and this variation may be related to the small number of controls included in the current study.…”

Section: Discussioncontrasting

confidence: 66%

“…Also, G6PD deficiency had been associated with exaggerated NHB that is most commonly seen in G6PD-deficient Mediterranean variant, a variant that accounts for more than three-fourths of the deficient variant in the region. [6][7][8][9][10] Therefore, the current study initiated to study the contribution of G6PD deficiency to NHB, the effect of such deficiency on the severity of the later condition and its implication on therapeutic modalities in the region.…”

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confidence: 99%

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G6PD Deficiency Prevalence as a Cause of Neonatal Jaundice in a Neonatal Ward in Dohuk, Iraq

2019

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Objective The current study initiated to address the effect of glucose-6-phosphate dehydrogenase (G6PD) deficiency on the pathogenesis and the severity of neonatal hyperbilirubinemia (NHB). Study Design A total of 100 newborns with moderate to severe indirect hyperbilirubinemia and 50 normal neonates without hyperbilirubinemia had been enrolled in the current case–control study. All enrolled neonates had been tested for ABO and Rh(D) blood grouping, Total serum bilirubin measurement, complete blood count, morphology, reticulocyte counts, direct Coombs' test, and G6PD enzyme assay. Results From all enrolled hyperbilirubinemic neonates, 16% were G6PD deficient and this displays a statistically significant difference in comparison to controls (only 6% were G6PD deficient). Also, significant difference was found in the level of serum indirect bilirubin among G6PD-deficient neonate in comparison to G6PD nondeficient neonates which had contributed significantly to the difference in the duration of phototherapy and hospitalization among deficient neonate. Despite this, no significant difference found in the onset of presentation, reticulocytes count, and age of neonates between the two groups (G6PD-deficient and G6PD nondeficient neonates). Conclusion The current study augments the etiological role of G6PD in the causation and severity of NHB in the region; however, in the absence of significant difference in the reticulocytes and the hemoglobin level, the underlying mechanism cannot be backed to the excess hemolysis alone.

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Section: Discussioncontrasting

confidence: 66%

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confidence: 99%

G6PD Deficiency Prevalence as a Cause of Neonatal Jaundice in a Neonatal Ward in Dohuk, Iraq

2019

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“…The result was similar to those obtained in six African countries [ 32 ], and confirms the results shown by previous studies that the G6PD A- was the most common deficient variant in sub-Saharan Africa [ 33 ]. This mutation also could be found in the region out of Africa, such as Iraq and Latin America [ 34 , 35 ], but the prevalence was very lower than in sub-Saharan Africa. The WHO groups the G6PD A- variant into a kind of “mild deficiency” (Class III).…”

Section: Discussionmentioning

confidence: 99%

G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea

Lin¹,

Yang

Xie³

et al. 2015

PLoS ONE

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BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies were the inherited conditions found mostly in African. However, few epidemiological data of these disorders was reported in Equatorial Guinea (EQG). This study aimed to assess the prevalence and healthy effects of G6PD deficiency and hemoglobinopathies among the people on malaria endemic Bioko Island, EQG.Materials and MethodsBlood samples from 4,144 unrelated subjects were analyzed for G6PD deficieny by fluorescence spot test (FST), high-resolution melting assay and PCR-DNA sequencing. In addition, 1,186 samples were randomly selected from the 4,144 subjects for detection of hemoglobin S (HbS), HbC, and α-thalassemia deletion by complete blood count, PCR-DNA sequencing and reverse dot blot (RDB).ResultsThe prevalence of malaria and anemia was 12.6% (522/4,144) and 32.8% (389/1,186), respectively. Overall, 8.7% subjects (359/4,144) were G6PD-deficient by FST, including 9.0% (249/2,758) males and 7.9% (110/1,386) females. Among the 359 G6PD-deficient individuals molecularly studied, the G6PD A- (G202A/A376G) were detected in 356 cases (99.2%), G6PD Betica (T968C/A376G) in 3 cases. Among the 1,186 subjects, 201 cases were HbS heterozygotes, 35 cases were HbC heterozygotes, and 2 cases were HbCS double heterozygotes; 452 cases showed heterozygous α-thalassemia 3.7 kb deletion (-α3.7 kb deletion) and 85 homozygous - α3.7 kb deletion. The overall allele frequencies were HbS 17.1% (203/1186); HbC, 3.1% (37/1186); and –α3.7 kb deletion 52.4% (622/1186), respectively.ConclusionsHigh G6PD deficiency in this population indicate that diagnosis and management of G6PD deficiency is necessary on Bioko Island. Obligatory newborn screening, prenatal screening and counseling for these genetic disorders, especially HbS, are needed on the island.

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“…Blood samples of all included children were collected in K2-EDTA tubes to examine complete blood count (using daily calibrated electronic hematology analyzer Swelabo-Sweden blood counter) and blood morphology. The remaining samples were frozen for DNA extraction using a modified salting-out extraction method adopted by Iranpur and Esmailizadeh that yields high quantity with high purity DNA [12,13].…”

Section: Methodsmentioning

confidence: 99%

Impact of IL-1Ra Gene Polymorphism on the Etiology and Fate of Disease in Children with Immune Thrombocytopenic Purpura

Rasheed

Eissa

2021

Journal of Immunology Research

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Background. Immune thrombocytopenic purpura (ITP) is considered to be one of the common childhood autoimmune diseases, and the current study was initiated to study the effect of various factors, particularly interleukin 1 receptor antagonist (IL-1Ra) gene polymorphism, on the course of the disease. Methods. The current case-control study involved 60 newly diagnosed children presented with ITP (also included 60 age- and sex-matched healthy children). All enrolled individuals had complete blood count and molecular study to determine the polymorphic state of IL-1Ra gene using conventional polymerase chain reaction. Results. Sixty patients with ages 1-14 years and having a male/female ratio of 1 : 1.61 were enrolled in the current study. Forty-five children (75%) recovered within the first year, and 15 (25%) children developed chronic ITP. IL-1Ra ∗ 2 variant was found to be significantly associated with control groups ( P = 0.011 ), while IL-1Ra ∗ 3 was significantly associated with patients ( P = − 0.0163 ). Other factors having significant association with the remission rate include a previous history of immunization ( P < 0.0001 ) and the symptoms at presentation ( P = 0.0009 ). Conclusions. The current study revealed a significant correlation of IL-1Ra gene polymorphism to the etiology and the course of the disease.

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Molecular Characterization of G6PD Deficient Variants in Nineveh Province, Northwestern Iraq

Cited by 14 publications

References 14 publications

G6PD Deficiency Prevalence as a Cause of Neonatal Jaundice in a Neonatal Ward in Dohuk, Iraq

G6PD Deficiency Prevalence as a Cause of Neonatal Jaundice in a Neonatal Ward in Dohuk, Iraq

G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea

Impact of IL-1Ra Gene Polymorphism on the Etiology and Fate of Disease in Children with Immune Thrombocytopenic Purpura

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