The spectrum of β-thalassemia mutations in Gaza Strip, Palestine

Sirdah, Mahmoud M.; Sievertsen, Jürgen; Al-Yazji, Mansour S.; Tarazi, Issa S.; Al-Haddad, Ramy M.; Horstmann, Rolf D.; Timmann, Christian

doi:10.1016/j.bcmd.2012.12.004

Cited by 27 publications

(20 citation statements)

References 17 publications

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“…The IVS-I-6 (T→C) mutation is one of the most common causes of β-thalassemia among individuals of Mediterranean and Middle Eastern ancestry [39,40]. Its high incidence has been reported among populations from Portugal [41]; Spain [42,43]; Albania [44]; the region of former Yugoslavia [45,46,47,48]; Greece [49,50,51,52]; Algeria [53]; Egypt [54]; Palestine [55,56]; Lebanon [57]; Syria [58,59]; Cyprus [60]; Turkey [61,62,63,64,65]; Saudi Arabia [66,67]; Iraq [68,69,70,71]; Iran [72,73,74]; and elsewhere. It results from a base substitution close to the 5′ splice junction, between exon I and intron I, and within a conserved consensus sequence, interfering with mRNA splicing and, consequently, reducing its efficiency.…”

Section: Discussionmentioning

confidence: 99%

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

et al. 2017

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Extramedullary hematopoiesis (EMH) results from the extension of hematopoietic tissue beyond the confines of the bones. Since the initiation of regular transfusion programs from an early age for all thalassemia major (ΤΜ) patients, EMH has not been considered a clinical issue anymore. The present study aims to record the prevalence of EMH in chronically transfused ΤΜ patients followed at our institution and to investigate possible risk factors associated with its occurrence. The project was designed as a retrospective, nonexperimental, descriptive, exploratory study. In total, the study enrolled 104 patients. EMH was revealed in 15/104 (14%) patients. The presence of intravening sequence (IVS)-I-6 was significantly related with the development of EMH (p < 0.05). No other demographic or biological factor studied was found to be related with the presence of EMH. The study stresses a profound incidence of asymptomatic EMH in a solid group of well-transfused ΤΜ patients. Given the high incidence of the IVS-I-6 allele in the Mediterranean and Middle Eastern region, high-quality, prospective, multicenter studies could confirm the association of EMH occurrence with the presence of the IVS-I-6 mutation and further evaluate the exact role of this mutation in the EMH process.

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Section: Discussionmentioning

confidence: 99%

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

et al. 2017

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“…The overall prevalence of β-thalassemia in the GS was 4.3% [9]. In GS, Palestine 0.02% of the population has been identified as β-thalassemia major [7].…”

Section: Introductionmentioning

confidence: 98%

“…Although Palestine is one of the Mediterranean basin countries in which thalassemia is prevalent, a few number of studies had been carried out on the disease [7]. The occurrence of hereditary hemochromatosis among β-thalassemia intermediate and β-thalassemia minor subjects in the Gaza Strip (GS) was assessed by Harara [8].…”

Section: Introductionmentioning

confidence: 99%

Quality of Life Among Thalassemia Children Patients in the Gaza Strip

Aljeesh

2016

AJNS

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Abstract:This study aimed to assess the quality of life of children (3-12 years) diagnosed with Thalassemia in Gaza Strip.A descriptive, analytical, cross-sectional design was used. All children 3-12 years old who were diagnosed with thalassemia and live in GS were included in the study (75 cases) with response rate (81.3%). Participants were interviewed by the researcher and completed the questionnaire which focused on quality of life of chronic diseases and included five domains. These domains are physical health, psychological health, social relationships, environment health and personal safety. Validity and reliability of the instrument were tested and the total instrument reliability test (Cronbach's Alpha) was 0.767. The scores for the study domains ranged between 2.81 for personal security domain and 3.66 for environmental health domain. Moreover, the study domains did not show statistically significant difference when compared by sex, living places, monthly income the relationship between parents and recurrent hospitalization. The findings of this study suggest the need of children diagnosed with thalassemia for support in all study domains. Health professionals need to work to minimize the disease's burdens. The current study calls the attention of health policy makers for new policies and new roles for the community health nurses and social workers. The study also revealed that there is a bad need to pay more attention when caring and dealing with thalassemia patients. Special food supplementation should be available in order to improve their physical health, more psychological support from their families and the society is needed. In addition, there is a need to provide safe environment and to enhance personal safety of these children.

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“…4-130 (MED) and 4-140 (IME); ViennaLab Diagnostics GmbH]. When the mutation found in the fetus was the same as carried by his/her mother, variable number tandem repeat (VNTR) markers (ApoB, MCT, IgJH, and D4S95) were used to confirm the absence of maternal contamination (22). Accordingly, the fetus was determined to be affected (both alleles of mutant variety), carrier (one mutant allele) or normal (no mutant allele).…”

Section: Amniotic Fluid Cell Culture and Dna Isolationmentioning

confidence: 99%

Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

et al. 2014

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Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14-22 weeks' gestation) were characterized. Molecular screening and direct DNA sequencing of the HBB gene was carried out. DNA analyses showed 14 affected fetuses (25.45%), 32 (58.18%) carriers and eight (14.54%) normal fetuses. It appears that 20.0% of individuals carried the sickle cell anemia mutation and 80.0% carried the β-thal mutation. Thirteen different known mutations were detected in the fetuses. The most common mutations were: IVS-II-1 (G > A), codon 39 (C > T)], IVS-I-110 (G > A), IVS-I-1 (G > A) and IVS-I-5 (G > C). The Hb S [β6(A3)Glu → Val; HBB: c.20A > T] mutation was the only abnormal hemoglobin (Hb) that was found. The results point to a successful future for PND of β-thal and sickle cell anemia in Syria, using a rapid and accurate molecular method. We hope that this method will be used as a common application approach to decrease the incidence of β-thal major (β-TM).

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The spectrum of β-thalassemia mutations in Gaza Strip, Palestine

Cited by 27 publications

References 17 publications

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

Quality of Life Among Thalassemia Children Patients in the Gaza Strip

Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

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