Geographical distribution of β-globin gene mutations in Syria

Murad, Hossam; Moasses, Faten; Dabboul, Amir; Mukhalalaty, Yasser; Bakoor, Ahmad Omar; Al‐Achkar, Walid; Jarjour, Rami A.

doi:10.1080/10245332.2018.1461291

Cited by 24 publications

(13 citation statements)

References 53 publications

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“…These ndings may be explained with the special location of Hainan Province which is located on a small island in southeast China. Comparing with other countries, the results are consistent with that in Thailand [7] but different from those in Pakistan [23], Syria [24], Iran [6], Vietnam [8] and India [25].…”

Section: Discussionsupporting

confidence: 57%

Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

et al. 2021

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Background: Thalassemia is one of the most prevalent inherited single gene diseases. Prevention of βthalassemia through prenatal diagnosis is the one of the most effective and direct approach to control the spread of this life-threatening disease. This study aims to determine the prenatal diagnosis of αthalassemia and β-thalassemia in 3049 families among eighteen regions of Hainan Province using molecular diagnosis.Methods: This study enrolled a total of 3049 couples and their fetuses at The First A liated Hospital of Hainan Medical University from January 2004 to March 2020. Genomic DNA was extracted from peripheral blood of the couples and villus, amniotic uid, or fetal cord blood of fetuses. DNA-based diagnosis was performed using polymerase chain reaction.Results: Here, the most commonly detected mutation of α-thalassemia was a South-East Asian deletion (31.53%), followed by -α 4.2 /αα (11.15%), -α 3.7 /αα (11.02%). The most common mutation for βthalassemia was CD41/42, followed by -28, accounting for 30.27% and 2.56%, respectively. The regions with the highest prevalence were the coastal regions and the regions with the lowest prevalence were Wenchang, Lingao and Ding'an. We also examined thalassemia gene mutations in Han people and other minority groups and found that the most common gene mutations in different ethnic were not homogeneous. Prenatal diagnosis showed 556 normal, 118 α-thalassemia hydrops and 161 βthalassemia major fetuses. Conclusion:Our ndings provide important information for clinical genetic counseling of prenatal diagnosis for thalassemia major in Hainan Province. Methods SubjectsThis study included pregnant women and their husbands who registered for a program of diagnosis of thalassemia at The First A liated Hospital of Hainan Medical University in Hainan Province between January 2004 and March 2020. All couples had resided in Hainan Province, and came from eighteen regions including Haikou,

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Section: Discussionsupporting

confidence: 57%

Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

et al. 2021

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“…In general, each population has its own β-globin gene mutation spectrum [54,55]. The disease is prevalent in the Mediterranean area, the Middle East, Africa, Southeast Asia, and the Indian subcontinent [55]. The precise prevalence of the carrier state of thalassemia in Mexico is not known but it appears to be not infrequent.…”

Section: Thalassemiamentioning

confidence: 99%

“…Among the different ethnic populations and their geographical regions, there is a huge variation in the spectrum of β-globin gene mutations. In general, each population has its own β-globin gene mutation spectrum [54,55]. The disease is prevalent in the Mediterranean area, the Middle East, Africa, Southeast Asia, and the Indian subcontinent [55].…”

Section: Thalassemiamentioning

confidence: 99%

Geographic Hematology: Some Observations in Mexico

et al. 2018

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In 1963 Jean Bernard introduced the concept of “geographic hematology” and distinguished 2 branches, i.e., “ethnic hematology,” which deals with differences between populations, and “environmental hematology,” which considers factors such as food habits, infections, and others. Both of these branches have implications in the distribution of hematological diseases worldwide. In comparison with Caucasian populations, in Mexico a significantly higher prevalence of acute lymphoblastic, acute promyelocytic, and acute megakaryoblastic leukemias has been described. The rate of chronic myeloid leukemia seems to be as high as that reported in Caucasian populations, while other myeloproliferative neoplasias are significantly less frequent in Mexico. Significantly lower prevalences of hairy cell leukemia, chronic lymphocytic leukemia, multiple myeloma, and Waldenström’s macroglobulinemia have been reported from Mexico. Regrettably, the influence of drug companies interested in selling their new and expensive drugs has resulted in both overdiagnosis of some diseases and overidentification of the refractory forms of some of these conditions to justify the use of unnecessary drugs.

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“…In the present study, most of the HBB gene mutations were detected in Saudi Arabia (49) and Syria (44). Syria has a distinguished sort of population with huge diversity in the ethnicity due to the historic colonization of the Roman, Ottoman and Mongols empires in the region and because of migration [28].…”

Section: Distribution Of Hbb Gene Mutations In the Arab Worldmentioning

confidence: 46%

The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review

Khan

Al-Sulaiti

Younes

et al. 2020

Expert Review of Hematology

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Geographical distribution of β-globin gene mutations in Syria

Abstract: These data will significantly facilitate the population screening, genetic counseling and prenatal diagnosis in Syrian population.

Cited by 24 publications

References 53 publications

Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

Geographic Hematology: Some Observations in Mexico

The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review

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