Molecular Update of β-Thalassemia Mutations in the Syrian Population: Identification of Rare β-Thalassemia Mutations

Jarjour, Rami A.; Murad, Hossam; Moasses, Faten; Al‐Achkar, Walid

doi:10.3109/03630269.2014.912661

Cited by 27 publications

(32 citation statements)

References 25 publications

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“…These results also indicate the importance of public health measures to prevent thalassemic births in these populations. In Syria, a total of 31, and in Iraq a total of 17 different BT mutations, have been reported . In Turkey, IVSI‐110 is the most frequent mutation among patients with BT; however, IVSI‐6 (T>C) and frameshift codon 8 (–AA) follows IVS‐1‐110, differing from Syria and Iraq .…”

Section: Discussionmentioning

confidence: 99%

“…In Syria, a total of 31, and in Iraq a total of 17 different BT mutations, have been reported. 31,32 In Turkey, IVSI-110 is the most frequent mutation among patients with BT; however, IVSI-6 (T>C) and frameshift codon 8 (-AA) follows IVS-1-110, differing from Syria and Iraq. 8 This finding may reflect ethnic differences even among neighboring countries.…”

Section: Refugee Children In Turkeymentioning

confidence: 99%

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Refugee children with beta‐thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics

Erdem

Yenigürbüz

Pekpak

et al. 2019

Pediatric Blood & Cancer

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Aim Since the beginning of the Syrian civil war, more than 3.5 million Syrians have been under temporary protection status in Turkey. Because beta‐thalassemia (BT) is a prevalent disorder in the Mediterranean countries, we decided to estimate the prevalence of and make an overview of the demographic, socioeconomic, medical characteristics, and healthcare problems of refugee children with BT. Patients Eighteen Turkish Pediatric Hematology Oncology Centers (PHOC) with 318 refugee children from 235 families participated in the study. The mean age of the patients was 8.1 ± 4.8 years (0.5–21 years). The mean time after immigration to Turkey was 2.5 ± 1.5 years (range, 0.1–7 years). Seventy‐two (22.6%) of them were born and diagnosed with BT in Turkey. On physical examination, 82 patients (26%) were underweight and 121 patients (38%) were stunted. The appearance of a thalassemic face was reported for 207 patients (65.1%). Hepatomegaly and splenomegaly were reported in 217 (68.2%) and 168 (52.8%) patients, respectively. The median ferritin level was 2508 ng/mL (range, 17–21 000 ng/mL) at the first admission, and 2841 ng/mL (range, 26–12 981 ng/mL) at the last visit after two years of follow‐up in a PHOC (P > 0.05). The most frequently encountered mutation was IVSI‐110 (G>A) (31%). Before immigration, only 177 patients (55.6%) reported the use of chelators; after immigration it increased to 268 (84.3%). Conclusion Difficulties in communication, finding a competent translator capable in medical terminology, nonregular use of medications, and insensitivity to prenatal diagnosis were preliminary problems. The current extent of migration poses emerging socioeconomic and humanitarian challenges for refugee patients with BT.

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Section: Discussionmentioning

confidence: 99%

Section: Refugee Children In Turkeymentioning

confidence: 99%

Refugee children with beta‐thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics

Erdem

Yenigürbüz

Pekpak

et al. 2019

Pediatric Blood & Cancer

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“…Our present study shows that all the detected mutations have been previously reported in the Syrian population (14)(15)(16)(17)(18)20). Hb S was present in 20.0% of the 55 couples included in this study, and it was the only abnormal Hb found.…”

Section: Discussionmentioning

confidence: 48%

“…Previous reports have shown the spectrum of b-thal mutations in the Syrian population (14)(15)(16)(17)(18)20).…”

Section: Discussionmentioning

confidence: 99%

“…The cost of treatment per b-thal patient is up to US$1500.00 per year. To date very few studies dealing with the molecular characterization of b-thal and sickle cell anemia in the Syrian population have been undertaken (14)(15)(16)(17)(18)(19)(20). In this study, we report for the first time our experience of PND for b-thal and sickle cell anemia, the major genetic diseases in Syria.…”

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confidence: 89%

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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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A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family

Murad

Moassas

Fakseh

2021

Molec Gen & Gen Med

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Background CAP+1 [A>C] (HBB:c.‐50A>C) is a rare silent β‐thalassemia (β‐thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β‐thalassemia mutations, leading to variable phenotypes. Case presentation Here, we describe for the first time the combination of silent CAP+1 [A>C] (HBB:c.‐50A>C) mutation with β0 codon 5 [‐CT] (HBB:c.17_18delCT) mutation in a Syrian proband, leading to beta thalassemia intermedia (TI). Conclusions The compound heterozygotes of the silent CAP+1 (A>C) together with another severe beta gene mutation, are phenotypically severe enough to present at an early age and require appropriate therapeutic modalities.

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Molecular Update of β-Thalassemia Mutations in the Syrian Population: Identification of Rare β-Thalassemia Mutations

Cited by 27 publications

References 25 publications

Refugee children with beta‐thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics

Refugee children with beta‐thalassemia in Turkey: Overview of demographic, socioeconomic, and medical characteristics

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

A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family

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