Molecular Basis of Hb H Disease in Southwest Iran

Yavarian, Majid; Karimi, Mehran; Zorai, Amine; Harteveld, Cornelis L.; Giordano, Piero C.

doi:10.1081/hem-200047019

Cited by 4 publications

(3 citation statements)

References 20 publications

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“…This variant is quite common in eastern Asian populations reaching an allele frequency of 2.9% in southern Thailand . It was only described in Greece in the Mediterranean area, the United Arab Emirates, and Iran at less than 1% of gene frequency . In this study, we report one case of this variant associated with the – MED‐I deletion that shows 17.4% of Hb H. In the Tunisian population, a similar average rate (17.66%) was observed with the α Saudi α/α Saudi α genotype .…”

Section: Discussionsupporting

confidence: 66%

Rare hemoglobin variants in Tunisian population

Zorai

Moumni

Mosbahi

et al. 2014

Int J Lab Hematology

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S U M M A RYDuring the last 30 years, many studies concerning hemoglobinopathies were realized among Tunisians. More than twenty different thalassemic alleles were detected on the b-globin gene, and less are affecting the a-globin genes. Unusual hemoglobin (Hb) variants other than Hb S, Hb C, and Hb O-arab, which are the most frequent variants in Tunisia, were also detected. Eight Tunisian subjects were studied at phenotypic and molecular levels. Hematological indices and hemoglobin (Hb) pattern were performed by alkaline electrophoresis and isoelectric focusing (IEF), and the Hb fractions were quantitated by cation exchange HPLC. On genomic level, coding regions were amplified by polymerase chain reaction (PCR) followed by a sequencing of the purified PCR products using the dye terminator method. Seven uncommon Hb variants were detected and described for the first time among Tunisians. HbA2-Tunis [d46(CD5), Gly ? Glu, GGG ? GAG] is the newly described d-chain variant in our laboratory, and some other variants (Hb Constant Spring, G San Jose, and Hb J-Bangkok) are very uncommon in the Mediterranean region. We present here an updated review of the Hb variants detected among Tunisians. Twenty-one rare Hb variants were detected affecting the a1-, a2-, d-, c-, and b-globin genes, leading in some cases to a severe phenotype especially when the stability is completely altered. The ethnical history of Tunisia could explain this important variability of the observed rare Hb variants.

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Section: Discussionsupporting

confidence: 66%

Rare hemoglobin variants in Tunisian population

Zorai

Moumni

Mosbahi

et al. 2014

Int J Lab Hematology

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“…Up to now, there are not many studies regarding β -globin haplotypes in Iranian population only a few haplotypes analysis has been performed as published and unpublished data which the authors used for their conclusion. Some studies of the haplotypes background showed Iran known as the gate of Asia through which passed the important Silk Road could be attributed to a single and independent mutational event or due to the genetic admixture with other Asian populations like India, China, and Kuwait, the United Arab Emirates (UAE) and areas along the south shore of the Persian Gulf [42, 43]. …”

Section: Discussionmentioning

confidence: 99%

Beta-Thalassemia in Iran: New Insight into the Role of Genetic Admixture and Migration

Rezaee

Banoei

Khalili³

et al. 2012

The Scientific World Journal

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Iran with an area of 1.648 million km2 is located between the Caspian Sea and the Persian Gulf. The Iranian population consists of multiethnic groups that have been influenced by various invasions and migration throughout history. Studies have revealed the presence of more than 47 different β-globin gene mutations responsible for β-Thalassemia in Iran. This paper is an attempt to study the origin of β-Thalassemia mutations in different parts of Iran. Distribution of β-Thalassemia mutations in Iran shows different patterns in different areas. β-Thalassemia mutations have been a reflection of people and area in correlation with migration and origin of ancestors. We compared the frequencies of β-globin mutations in different regions of Iran with those derived from neighboring countries. The analysis provided evidence of complementary information about the genetic admixture and migration of some mutations, as well as the remarkable genetic classification of the Iranian people and ethnic groups.

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“…It has been suggested that the molecular background of Hb H disease in the southwest area of Iran is more similar to the Mediterranean type than to the Southeast Asian [72]. …”

Section: Thalassemiamentioning

confidence: 99%

Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

Rahimi

2013

BioMed Research International

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There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah (western Iran) provinces, respectively. Also, α-chain variants of Hb Q-Iran and Hb Setif are prevalent in western Iran. The molecular basis and clinical severity of thalassemias are extremely heterogenous among Iranians due to the presence of multiethnic groups in the country. β-Thalassemia is more prevalent in northern and southern Iran. Among 52 different β-thalassemia mutations that have been identified among Iranian populations, IVSII-1 G:A is the most frequent mutation in most parts of the country. The presence of IVS I-5 G:C mutation with high frequency in southeastern Iran might reflect gene flow from neighboring countries. A wide spectrum of α-thalassemia alleles has been detected among Iranians with −α 3.7 kb as the most prevalent α-thalassemia mutation. The prevention program of thalassemia birth in Iran has reduced the birth rate of homozygous β-thalassemia since the implementation of the program in 1997. In this review genetic epidemiology, clinical and hematological aspects of hemoglobinopathies, and the prevention programs of β-thalassemia in Iran will be discussed.

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Molecular Basis of Hb H Disease in Southwest Iran

Cited by 4 publications

References 20 publications

Rare hemoglobin variants in Tunisian population

Rare hemoglobin variants in Tunisian population

Beta-Thalassemia in Iran: New Insight into the Role of Genetic Admixture and Migration

Genetic Epidemiology, Hematological and Clinical Features of Hemoglobinopathies in Iran

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