An Updated Review of Abnormal Hemoglobins in the Turkish Population

Akar, Nejat

doi:10.4274/tjh.2012.0202

Cited by 13 publications

(11 citation statements)

References 16 publications

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“…Most common variants are hemoglobin S (B6 Glu-Val), Hb D Punjab (B121 Glu-Gln), Hb O Arab (B121 Glu-Lys) and Hb E Saskatoon (B22 Glu-Lys). [1][2][3] Previously it was reported that a unique repetitive sequence at the A gene IVS-II of the -S globin chain can discriminate African haplotypes of Hb S. These reports analyzed the haplotypes and gave the sequences as follows: Benin (TG)10CGCGCGCG(TG)7TC; Bantu (TG)10(CG)3(TG)9TC; Senegal (TG)13TC; Arab-India (TG)13TC and Cameroon (TG)12(CG)3(TG)7TC. 4,5 We aimed to sequence the A gene IVS-II region of the globin gene for hemoglobin S and other common hemoglobin variants in Turkish population.…”

Section: A Gene Repeats Polymorphism For the Analysis Of Haplotypes Omentioning

confidence: 99%

γA Gene Repeats Polymorphism for the Analysis of Haplotypes of Abnormal Hemoglobins

Akar

Sipahi

Akar

et al. 2014

Thalassemia Reports

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Aim of this study was to analyze A gene repeat polymorphism for the analysis of haplotypes of hemoglobin (Hb) variants such as Hb S, Hb D-Punjab, Hb O-Arab. Sickle cell cases had mainly Benin and Arab/Indian haplotype. We found three different haplotypes among Hb S, Hb O Arab and Hb D-Punjab cases. We named these three variants as Anatolian-1 and Anatolian-2 and Asian. Our data revealed that Hb O Arab may arise twice one from Asia and the other from Europe.

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Section: A Gene Repeats Polymorphism For the Analysis Of Haplotypes Omentioning

confidence: 99%

γA Gene Repeats Polymorphism for the Analysis of Haplotypes of Abnormal Hemoglobins

Akar

Sipahi

Akar

et al. 2014

Thalassemia Reports

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“…Hemoglobin bozuklukları, gerek ülkemizde gerekse dünyada rastlanan en önemli kalıtsal hastalıklardan-dır (1,2) . Dünyada 229 ülkenin %60'ında hemoglobin bozuklukları endemik olarak görülmektedir.…”

Section: Introductionunclassified

Abnormal Hemoglobin Variants Detected by HPLC Method in Okmeydanı Training and Research Hospital Medical Biochemistry Laboratory

Dikker¹,

Vardar²,

Sandıkçı³

et al. 2016

Okmeydani Medical Journal

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“…Altay ve Akar 2000'li yıllarda yaptıkları bir çalışmada α globin zincirinden kaynaklı anormal hemoglobin tiplerini rapor etmişlerdir [5][6][7]. Bu çalışmada α globin zincirinin 78.…”

Section: Introductionunclassified

The first observation of two alpha globin mutations in Turkey: Hb Stanleyville II and a homozygous 5nt deletion

Güzelgül¹

2014

Turk J Bioch

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Objective: In this study, we aimed to contribute prenatal diagnosis in the Çukurova region having high prevalence of hemoglobinopathies by implementing DNA sequencing analysis for the mutations undetectable by conventional methods. Methods: Hematological parameters of two families applied to Cukurova University Prenatal Diagnosis Center were analyzed. Hb variants were screened by cellulose acetate electrophoresis and by HPLC. DNA samples of cases were isolated using automatic DNA extraction machine. Microarray, RFLP, ARMS and Gap-PCR molecular methodologies carried out for determinations of hemoglobin mutations. Unidentified mutations were resolved by means of DNA Sequence Analysis. Results: We identified a previously unreported homozygous 5 nt deletional mutation [α2 IVS-1 134.-138. nt (TGAGG)] in Turkey by DNA Sequence Analysis. When we investigated twelve cases of this family by Gap-PCR and DNA Sequence Analysis it is observed that seven cases were heterozygous for 5nt deletion, a case found to be heterozygous 20.5 kb deletional mutation and four cases were found to be having no mutation. In the other family applied for prenatal diagnosis was observed to having Hb Stanleyville II [α2 78 (EF 7) Asn→ Lys (AAC→AAA)] mutation which is also a novel mutaion in Turkey. Mutations of eleven members of this family were determined by ARMS, RFLP, Gap-PCR and DNA Sequence Analysis, resulting in two cases heterozygous Hb Stanleyville II, five cases heterozygous 3.7 kb deletion, a case with heterozygous IVS-1-110 (G→C) mutation on β globin gene and three cases do not have any mutation. Conclusion: In this study, two types of mutations observed for the first time in Turkey have been identified.

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An Updated Review of Abnormal Hemoglobins in the Turkish Population

Cited by 13 publications

References 16 publications

γA Gene Repeats Polymorphism for the Analysis of Haplotypes of Abnormal Hemoglobins

γA Gene Repeats Polymorphism for the Analysis of Haplotypes of Abnormal Hemoglobins

Abnormal Hemoglobin Variants Detected by HPLC Method in Okmeydanı Training and Research Hospital Medical Biochemistry Laboratory

The first observation of two alpha globin mutations in Turkey: Hb Stanleyville II and a homozygous 5nt deletion

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