Genetic diseases in Lebanon

Kaloustian, Vazken M. Der; Naffah, J; Loiselet, Jacques; Optiz, John M.

doi:10.1002/ajmg.1320070212

Cited by 37 publications

(27 citation statements)

References 66 publications

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“…30 Genotypic analysis of G6PD-deficient variants showed that most Middle Eastern subjects acquired the Gd Mediterranean allele. 30,31 The incidence of 0.92% (1.2% in males) for complete deficiency in our study is lower than the two previously reported incidences where 549 (3.09%) 4 and 282 Lebanese men (2.13%) were screened in Kuwait. 30 The small sample size of these earlier studies and the methods used for screening probably accounted for these higher rates when compared to our study.…”

Section: G6pd Deficiencycontrasting

confidence: 49%

“…[1][2][3] Seventeen percent of pediatric hospital admissions in Lebanon are due to PKU, CH, and G6PD deficiency. 4 PKU is an inherited disorder of phenylalanine metabolism affecting 1:10,000-1:12,000 newborns. 5 Since the introduction of blood screening for PKU, mental retardation has virtually been eliminated, except for some persistence of learning difficulties.…”

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confidence: 99%

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A Neonatal Screening in Lebanon: Results of Five Years’ Experience

et al. 2003

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Background: Neonatal screening programs for common disorders like phenylketonuria, congenital hypothyroidism, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are not fully established at the national level in Lebanon. Screening for the above disorders was carried out for newborns delivered at the American University of Beirut Medical Center over a period of five years. Subjects and Methods: Blood specimens collected 2-3 days after birth were applied to neonatal screening blood collection cards. A total of 9117 newborns were screened using phenylalanine, thyroid-stimulating hormone, and G6PD activity measurements on blood spots. Results: One case of phenylketonuria and another of hyperphenylalaninemia were detected. We also detected 5 cases of permanent type congenital hypothyroidism, giving an incidence of 5:9117 (1:1823). The age range at initiation of hormonal replacement therapy was 9-46 days. The overall incidence of G6PD was 106:9117 (1:86 or 1.16%), of which 84 had complete deficiency (1:109 or 0.92%), and 22 with intermediate activity. Conclusion:The incidence of these disorders found in this Lebanese sub-population warrants consideration of a comprehensive nationwide neonatal screening program.

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Section: G6pd Deficiencycontrasting

confidence: 49%

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confidence: 99%

A Neonatal Screening in Lebanon: Results of Five Years’ Experience

et al. 2003

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“…We distinguished 6 families (A to F) although some links between these families are quite conceivable. Indeed, even if it was not possible to determine a clear familial relationship between these families, the high rate of consanguineous marriage in this community 11,12 suggests a common ancestor.…”

Section: Patientsmentioning

confidence: 89%

Section: Family Characteristics Clinical History and Laboratory Datamentioning

confidence: 99%

“…The degree of "genetic impermeability" varies widely according to ethnic group and creates real clusters. 11,12 Moreover, the prevalence of patrilateral parallel-cousin marriage is very common among Muslims.The 10 afibrinogenemic patients analyzed in this study were all born from Shiite consanguineous marriages (Figure 1). They all suffer from hemorrhagic complications (umbilical cord bleeding, menorrhagia, posttraumatic hematomas, hematuria, gastrointestinal bleeding, mouth and nose bleeding, hemarthroses, muscle hematomas), particularly because they only rarely benefit from treatment with cryoprecipitate or fibrinogen preparations.…”

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Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells

Neerman-Arbez¹,

Germanos-Haddad²,

Tzanidakis³

et al. 2004

Blood

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Congenital afibrinogenemia, the most severe form of fibrinogen deficiency, is characterized by the complete absence of fibrinogen. The disease is caused by mutations in 1 of the 3 fibrinogen genes FGG, FGA, and FGB, clustered on the long arm of human chromosome 4. The majority of cases are due to null mutations in the FGA gene although one would expect the 3 genes to be equally implicated. However, most patients studied so far are white, and therefore the identification of causative mutations in non-European families is necessary to establish if this finding holds true in all ethnic groups. In this study, we report the identification of a novel nonsense mutation (Arg134Xaa) in the FGG gene responsible for congenital afibrinogenemia in 10 patients from Lebanon. Expression studies in COS-7 cells demonstrated that the Arg134Xaa codon, which is encoded by adjacent exons (TG-intron 4-A) affected neither mRNA splicing nor stability, but led to the production of an unstable, severely truncated fibrinogen ␥ chain that is not incorporated into a functional fibrinogen hexamer. ( IntroductionInherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenemia and afibrinogenemia) or the quality (dysfibrinogenemia) of circulating fibrinogen. Fibrinogen is produced in the liver from 3 homologous polypeptide chains, A␣, B␤, and ␥, which assemble to form a hexamer containing 2 copies of each chain. Fibrinogen is the precursor of fibrin, the major protein constituent of the blood clot. Congenital afibrinogenemia (OMIM: online Mendelian Inheritance in Man; no. 202400), 1 the most severe form of fibrinogen deficiency, is characterized by the complete absence of fibrinogen. The disease was originally described in 1920; 2 it has an estimated prevalence of around 1 to 2 in 1 000 000. Umbilical cord hemorrhage is often the first sign of the disorder; gum bleeding, epistaxis, menorrhagia, gastrointestinal bleeding, and hemarthrosis occur with varying intensity, and spontaneous intracerebral bleeding and splenic rupture can occur throughout life. 3,4 Congenital afibrinogenemia is inherited in an autosomal recessive manner: the condition exists only when both alleles are mutated, in homozygosity or compound heterozygosity; both sexes are affected. Although the disease was first described in 1920, the genetic locus responsible for the disorder was only recently determined. We identified the first causative mutations for this disorder in a nonconsanguineous Swiss family. The genetic defect was an apparently recurrent deletion of approximately 11 kb of DNA that eliminates the majority of the FGA gene and so leads to a complete absence of functional fibrinogen. 5 The deletions were all identical to the base pair and probably resulted from nonhomologous (illegitimate) recombination, mediated by a direct 7 bp repeat, AACTTTT, and perhaps also by indirect repeats in the breakpoint region. Many families with this disorder have been studied since then, allowing the identification of numerous causative mutations (reviewe...

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Acceptance of First-Trimester Prenatal Diagnosis for the Haemoglobinopathies in Lebanon

Zahed

Bou-Dames²

1997

Prenat. Diagn.

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We have interviewed 83 couples at risk for a haemoglobin disorder, mostly β‐thalassaemia, in an effort to evaluate their attitude towards first‐trimester prenatal diagnosis. Most of the families had received poor education and were of low socio‐economic status and more than half of the couples were not properly aware of their genetic risk. Fifty‐nine per cent of the couples were definitely in favour of prenatal diagnosis, 23 per cent were uncertain at the time of the interview, and 18 per cent were opposed to such testing, because of their religious conviction against termination of a pregnancy. Another important factor which seems to influence choice was the cost of the test. Essential issues that arise from this study include the importance of a control programme adapted to particular populations, proper information and counselling, and the need for financial support in countries such as Lebanon. © 1997 John Wiley & Sons, Ltd.

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Genetic diseases in Lebanon

Cited by 37 publications

References 66 publications

A Neonatal Screening in Lebanon: Results of Five Years’ Experience

A Neonatal Screening in Lebanon: Results of Five Years’ Experience

Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells

Acceptance of First-Trimester Prenatal Diagnosis for the Haemoglobinopathies in Lebanon

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