β-Globin gene cluster haplotypes of Hb D-Los Angeles in Mazandaran Province, Iran

Mahdavi, Mohammad; Jalali, Hossein; Kosaryan, Mehrnoush; Roshan, Payam; Mahdavi, Mehrdad

doi:10.1266/ggs.90.55

Cited by 11 publications

(5 citation statements)

References 10 publications

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“…Most of the cases were found to be in association with the Mediterranean haplotype I [+ − − − − + +] and linked with the newly reported Turkish haplotype [− + − − + + +] (Atalay, ). Conversely, a novel haplotype [− + + − − + −] was reported in association with Hb D‐Los Angeles, in province of Mazandaran, northern Iran (Mahdavi, ). These results suggest that the Hb D‐Los Angeles mutation has more than one genetic origin.…”

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confidence: 99%

Analysis of the population genetic structure of Hb D‐Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation

Öztürk

Arıkan

Atalay

et al. 2015

American J Hum Biol

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Our data suggest that the Hb D-Los Angeles population originated within the normal population in Denizli, Turkey. Our results support the hypothesis that the Hb D-Los Angeles mutation may have originated in the Mediterranean area, independent from other populations such as India and China. The evaluation of such data may contribute valuable information to anthropological, paleoclimatic, archaeological, and phylogeographical approaches to human biology throughout the historical period. Am. J. Hum. Biol. 28:476-483, 2016. © 2015 Wiley Periodicals, Inc.

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confidence: 99%

Analysis of the population genetic structure of Hb D‐Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation

Öztürk

Arıkan

Atalay

et al. 2015

American J Hum Biol

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“…According to the results of their study, the -3.7 deletion (44.9%), polyadenylation signal 2 (α Poly A2 ) (AATAAA > AATGAA) (18.2%), -4.2 deletion (9.1%), α-5nt (6.5%), --MED (4.3%), and α codon 19 (-G) (4%) were the most frequent mutations observed in the region [13]. Moreover, several variants of hemoglobin, such as Hb D [14], Hb J-Toronto [15], Hb Setif [16], Hb Fontainebleau [17], Hb Daneshgah-Tehran [18], and Hb S [19], have also been reported from that region. Since Mazandran is located in the south of the Caspean Sea, which has a subtropical climate as well as a high prevalence of malaria having been observed in the region in the past, a high frequency of thalassemia is reported from there.…”

Section: Discussionmentioning

confidence: 99%

HbAdrian (α1:c.251del, p.Leu84Argfs*19)—A Novel Pathogenic Variant in the α1-Globin Gene Associated with Microcytosis from the North of Iran

Jalali

Karami

Mahdavi

et al. 2023

Thalassemia Reports

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Background: Alpha thalassemia is one of the most common human genetic abnormalities. More than 400 different variations of the α-globin protein have been introduced, most of which are not associated with noticeable clinical manifestations. The identification of all variants of Hb in different regions helps in acquiring comprehensive knowledge concerning thalassemia disease, and it can be used in preventive programs as well as prenatal diagnosis (PND). Aims: In the present study, we describe a new α1 gene mutation that leads to a frameshift after codon 83. Methods: As a plan for a national screening program of thalassemia, routine cell blood count (CBC) and Hb capillary electrophoresis tests were applied. After taking written informed consent, genomic DNA was extracted, and, for identifying common Mediterranean α-Globin gene deletion, multiplex Gap-PCR was performed; for detecting other mutations on α- and β-Globin genes, a DNA sequencing method was used. Results: The results of CBC and capillary electrophoresis tests showed microcytosis in a female subject. The sequencing of the α-Globin gene showed that the case is heterozygote for a single-nucleotide deletion at codon 83 of the α1-Globin Gene. We named this mutation Hb Adrian (α1: c.251–T), which is a novel mutation. The mentioned mutation was also detected in the subject’s mother. Conclusions: The introduced mutation (Hb Adrian) leads to a frameshift change that produces a protein with 100 amino acids, which in comparison to a normal α-chain is shorter, and its amino acids are altered after codon 83. This hemoglobin is undetectable via the use of electrophoresis. Although no major hematological abnormalities were observed in the carriers, Hb Adrian should be considered in screening programs to help prevent Hb H disease in high-risk couples.

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“…Mazandaran is a province of Iran located on the southern coastline of the Caspian Sea, and thalassemia is a common hereditary genetic disorder in that region [6]. Several variants of Hb, such as Hb D [7], Hb J-Toronto [8], Hb Fontainebleau [9], and Hb S [10], have also been reported in Mazandaran. In the present study, we report a novel variant of the α1-globin gene, Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC, detected in a family from Mazandaran, Iran.…”

Section: Discussionmentioning

confidence: 99%

Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene

Jalali

Mahdavi

Mahdavi³

et al. 2022

Thalassemia Reports

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This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC > TGC, named Hb Mazandaran, which was observed in an Iranian family. This variant gives rise to a previously undescribed haemoglobin variant that was undetectable by capillary haemoglobin electrophoresis (CE). This variant was detected in two cases in combination with β-globin mutation, and it does not seem to be associated with severe haematological abnormalities in the carriers.

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β-Globin gene cluster haplotypes of Hb D-Los Angeles in Mazandaran Province, Iran

Cited by 11 publications

References 10 publications

Analysis of the population genetic structure of Hb D‐Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation

Analysis of the population genetic structure of Hb D‐Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation

HbAdrian (α1:c.251del, p.Leu84Argfs*19)—A Novel Pathogenic Variant in the α1-Globin Gene Associated with Microcytosis from the North of Iran

Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene

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