The Spectrum of β-Thalassemia Mutations in Baghdad, Central Iraq

Al-Allawi, Nasir; Al-Mousawi, Bassam M.S.; Badi, Ameer I.A.; Jalal, Sana Dlawar

doi:10.3109/03630269.2013.810641

Cited by 22 publications

(11 citation statements)

References 30 publications

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“…It is reported that in Syria and Iraq, hemoglobinopathies are highly prevalent . Jarjour et al reported a high consanguinity rate (49.0%) among the parents of BT patients in Syria.…”

Section: Discussionmentioning

confidence: 99%

“…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%

“…It is reported that in Syria and Iraq, hemoglobinopathies are highly prevalent. [30][31][32][33][34][35][36] Jarjour et al 31 reported a high consanguinity rate (49.0%) among the parents of BT patients in Syria. Indeed, the rate of consanguineous marriage was very high (70%) in our study group.…”

Section: Refugee Children In Turkeymentioning

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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“…It is reported that in Syria and Iraq, hemoglobinopathies are highly prevalent . Jarjour et al reported a high consanguinity rate (49.0%) among the parents of BT patients in Syria.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Refugee Children In Turkeymentioning

confidence: 99%

Section: Refugee Children In Turkeymentioning

confidence: 99%

See 2 more Smart Citations

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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“…Several studies have addressed the molecular basis of thalassemia major and minor in Iraq [4–6], but none had looked at its basis in thalassemia intermedia patients. Therefore, the current study was initiated to determine the molecular basis of TI and the genotype/phenotype correlations in Northern Iraq and to review its management practices in comparison with those employed in other countries in the Mediterranean and the Middle East.…”

Section: Introductionmentioning

confidence: 99%

β-Thalassemia Intermedia in Northern Iraq: A Single Center Experience

Al-Allawi

Jalal

Mohammad

et al. 2014

BioMed Research International

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To investigate the molecular basis of β-thalassemia intermedia in Northern Iraq and evaluate its management practices, a total of 74 patients from 51 families were enrolled. The patients were clinically and hematologically reevaluated, and had their β-thalassemia mutations characterized, as well as the number of α-globin genes and Xmn I G γ −158 (C>T) polymorphism studied. Out of 14 β-thalassemia mutations identified, the four most common were IVS-I-6 (T>C) [33.3%], IVS-II-I (G>A) [21.1%], codon 82/83(−G) [10.1%], and codon 8 (−AA) [8.1%]. The most common contributing factors to the less severe phenotype of thalassemia intermedia were found to be the inheritance of mild β-thalassemia alleles and the Xmn I polymorphism, while concomitant α-thalassemia had a limited role. Several complications were documented including: pulmonary hypertension in 20.4%, diabetes mellitus in 1.4%, hypothyroidism in 2.9%, and heart failure in 2.7%, while no documented cases of venous thrombosis were found. Compared to their counterparts in several Mediterranean countries, it appears that our patients were much less frequently transfused and had a lower proportion of patients who were splenectomized, on iron chelation, or hydroxycarbamide therapy. Such practices require further scrutiny to ensure that a better level of care is provided and that growth retardation, skeletal changes, and other complications are prevented or reduced.

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Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq

Eissa

Kashmoola²,

Atroshi

et al. 2014

Indian J Hematol Blood Transfus

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Beta thalassemia is an important health problem in Nineveh province, a large province in Northwestern Iraq. No previous study of significance had focused on the spectrum of β-thalassemia mutations in this part of the country. A total of 94 unrelated β-thalassemia minor subjects from the latter province were recruited. Their carrier status was confirmed by full blood count, Hb A2 and F estimation. Thereafter their DNA was subjected to multiplex polymerase chain reaction and reverse hybridization to detect 20 β-thalassemia mutations. A total of eleven different β-thalassemia mutations were documented. The most frequent mutation was IVS-I-110 (G>A) documented in 34 %, followed by IVS-I-6 (T>C) in 9.6 %, IVS-I-5(G>C) in 8.5 %, codon 39 (C>T) and codon 44 (-C) in 7.4 % each, while IVS-I-1(G>A) and IVS-II-1(G>A) were encountered in 6.4 % each. Other mutations were less frequent including codon 8 (-AA), IVS-I-130 (G>C), codon 5 (-CT) and IVS-II-745(C>G). The current study revealed notable differences in the relative frequencies of several β-thalassemia mutations in Nineveh province as compared to other parts of Northern Iraq. Such an observation may be reflective of different ethnic backgrounds and varying historical population interactions. It is believed that these findings complement those of earlier studies on β-thalassemia mutations from the country, and are quite essential in the setting of a proposed national preventive program.

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The Spectrum of β-Thalassemia Mutations in Baghdad, Central Iraq

Cited by 22 publications

References 30 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

β-Thalassemia Intermedia in Northern Iraq: A Single Center Experience

Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq

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