β-Thalassemia Mutations in the Iranian Kurdish Population of Kurdistan and West Azerbaijan Provinces

Haghi, Mehdi; Khorshidi, Shohre; Feizi, Mohammad Ali Hosseinpour; Pouladi, Nasser; Feizi, Abbas Ali Hosseinpour

doi:10.1080/03630260902862020

Cited by 33 publications

(26 citation statements)

References 15 publications

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“…The IVS-I-5 anomaly is another Asian Indian mutation, which is the most frequent mutation in Pakistan, southern and southwestern Iran, and is also common in many Arab countries (7,16,20,22). The frequency of 8.1% in this study is comparable to that reported from Dohuk, but is rather higher than that of Iranian Kurds or the East Anatolia region of Turkey (9,10,13). On the other hand, codon 5, which has been considered as a Kurdish/Iranian β 0 mutation, was also observed in a significant proportion of cases in an earlier (10), as well as Iranian Kurds (9), but not from the East Anatolia region of Turkey (13).…”

Section: Discussionsupporting

confidence: 88%

“…This mutation is the most common β-thal mutation in many eastern Mediterranean populations, including Turkey, Lebanon, Jordan and Syria (12)(13)(14)(15)(16), and has its highest frequencies in Cyprus, but its frequency gradually decreases in countries further to the east, with a distribution pattern almost opposite to that of IVS-II-1 (15)(16)(17)(18)(19)(20). However, such a high frequency in Kurds of northeastern Iraq is not shared by those from Dohuk or Iran with frequencies of 1.9 and 6.0%, respectively, but is comparable with those reported from northwestern Iranian populations (18.0%) (8)(9)(10).…”

Section: Discussionsupporting

confidence: 87%

“…Our figure of 4.1%, appears to be intermediate between the higher rates in Dohuk and Turkey and the overall Iranian figures, and is more comparable to those reported from Iranian Kurds (7,9,10,12,13). Another common mutation identified in the current study was IVS-I-1, a Mediterranean β 0 mutation, with a frequency lower than that reported in Kurds from Dohuk or those from west Iran (8)(9)(10).…”

Section: Discussionsupporting

confidence: 76%

“…The tribal and social connections between Kurds throughout this large area spans more than two thousand years and well before the establishment of modern boundaries between the latter countries (6). Northeastern Sulaimaniyah Province borders western and northwestern provinces in Iran, and therefore, it is not unexpected that the IVS-II-1 mutation is the most frequent mutation identified in our patients, since it is also the predominant mutation among Iranian Kurds and northwestern Iranians ( Table 2) as well as most other parts of Iran (7)(8)(9). Furthermore, IVS-II-1 was found to be the predominant mutation in Kurds of Dohuk in northern Iraq bordering Turkey (10).…”

Section: Discussionmentioning

confidence: 52%

“…Codons 8/9, an Asian Indian β 0 mutation, was the next most prevalent mutation, which is common in the Indian subcontinent (21) as well as Iranian Kurds and northwestern Iranians (15.7 and 14.5% respectively) (8,9). A decreasing frequency was seen as we moved west and north to Dohuk Province (7.7%) and the East Anatolia region of Turkey (5.1%) (10,13).…”

Section: Discussionmentioning

confidence: 91%

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β-Thalassemia Mutations in the Kurdish Population of Northeastern Iraq

et al. 2010

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A random 123 carriers of β-thalassemia (β-thal), identified by the Sulaimaniyah Provincial Premarital Screening Program in northeastern Iraq, were screened for β-thal mutations using multiplex polymerase chain reaction followed by reverse hybridization StripAssay and direct sequencing. A total of 11 different β-thal mutations was identified in the studied samples, of which eight represented 96% of the mutated β-globin genes. These were IVS-II-1 (G>A), IVS-I-110 (G>A), codon 8 (-AA), codons 8/9 (+G), IVS-I-5 (G>C), codon 5 (-CT), IVS-I-6 (T>C) and IVS-I-1 (G>A). Other mutations were less common or sporadic. There were some notable differences in frequencies of various mutations in comparison to other eastern Mediterranean populations, as well as with previous studies of Iraqi Kurds. The latter illustrate the relative heterogeneity of the mutations distributed in Iraq, and the need to screen other areas of the country, to ensure the establishment of an effective prenatal diagnosis program.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionsupporting

confidence: 87%

Section: Discussionsupporting

confidence: 76%

Section: Discussionmentioning

confidence: 52%

Section: Discussionmentioning

confidence: 91%

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β-Thalassemia Mutations in the Kurdish Population of Northeastern Iraq

et al. 2010

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Molecular basis and prenatal diagnosis of β‐thalassemia among Balouch population in Iran

Miri‐Moghaddam

Zadeh‐Vakili

Rouhani³

et al. 2011

Prenatal Diagnosis

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Genetic epidemiology of hemoglobinopathies among Iraqi Kurds

2020

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Hemoglobinopathies are major health problems among Iraqi Kurds, who are a distinct ethnic group inhabiting North and Northeastern Iraq. We reviewed published literature on these disorders in this part of the world, and it was revealed that the most prevalent is β-thalassemia with carrier rates of 3.7-6.9%. Alpha thalassemia is less prevalent with carrier rates of 0.03-1.22%, while the sickle cell gene is variably distributed with carrier rates of 0.06-1.2%. Other structural hemoglobinopathies and δβ-thalassemia are sporadic. Twenty-seven different β-thalassemia mutations were identified, with seven constituting 82% of 1039 chromosomes characterized, namely: IVS-II-1 (G>A), IVS-I-6 (T>C), IVS-I-I (G>A), codon 8 (−AA), codon 8/9 (+G), IVS-I-110 (G>A), and codon 5 (-CT). There were notable regional variations in the distribution of β-thalassemia mutations, with Cd44 being mainly prevalent in the North, while IVS-I-110 is mainly prevalent in the East. In relevance to α-thalassemia, ten different mutations were detected, with the four most frequent constituting 92.4% of 262 alleles characterized being: −α 3.7 , -MED , α −5nt α, and α PolyA1 α. In relevance to sickle cell gene, it is seen in the northern part of the region bordering Turkey, with comparable prevalence rates, and is associated, similar to Turkey, mainly with the Benin haplotype, unlike that in Southern Iraq where it is associated with the Arab-Indian haplotype, similar to Eastern Arabian Peninsula. Given the high prevalence of hemoglobinopathies in the region, and the high rates of consanguineous marriages, a preventive program was initiated in 2008, and results of its first 5 years were promising, though there are still many outstanding challenges that require addressing.

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β-Thalassemia Mutations in the Iranian Kurdish Population of Kurdistan and West Azerbaijan Provinces

Cited by 33 publications

References 15 publications

β-Thalassemia Mutations in the Kurdish Population of Northeastern Iraq

β-Thalassemia Mutations in the Kurdish Population of Northeastern Iraq

Molecular basis and prenatal diagnosis of β‐thalassemia among Balouch population in Iran

Genetic epidemiology of hemoglobinopathies among Iraqi Kurds

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