Hb Sarrebourg [β131(H9)Gln→Arg, C<i>A</i>G&gt;C<i>G</i>G] in Turkey

Çürük, Mehmet Akif; Çavuşoğlu, Aydan Çelebiler; Arıcan, Huriye; Uzuncan, Nuriye; Karaca, Baysal

doi:10.3109/03630269.2010.526821

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Cited by 3 publications

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“…During the last five years, several variants, each belonging to one family, confirmed with DNA sequencing were reported ( Table 1 ) [ 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 ]. Two further new variants (Hb İzmir and Hb Edirne) was reported in Turkish population for the first time [ 18 , 21 ].…”

Section: To the Editormentioning

confidence: 99%

An Updated Review of Abnormal Hemoglobins in the Turkish Population

Akar¹

2014

Tjh

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Section: To the Editormentioning

confidence: 99%

An Updated Review of Abnormal Hemoglobins in the Turkish Population

Akar¹

2014

Tjh

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Molecular analysis of abnormal hemoglobins in beta chain in Aegean region of Turkey and first reports of hemoglobin Andrew-Minneapolis and Hb Hinsdale from Turkey

et al. 2014

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A New Hemoglobin Variant: Hb Izmir [β86(F2)Ala→Val, GCC>GTC; HBB:c.260C>T]

et al. 2012

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We report a new hemoglobin (Hb) variant [β86(F2)Ala→Val; HBB:c.260C>T] that we have named Hb Izmir. We have identified Hb Izmir in a Turkish woman by ion exchange high performance liquid chromatography (HPLC) during a premarital screening program in the Aegean region of Turkey. The mother and sister of the proband also carried the same variant. Using direct sequencing, we have characterized this variant as resulting from a GCC>GTC replacement at codon 86 of the β-globin chain, corresponding to an Ala→Val amino acid substitution. In the heterozygote, the level of Hb Izmir ranged from 41.38 to 45.6%. All heterozygotes had a Hb A(2) level of less than 3.5%. Total blood count values were normal and there were no other clinical findings. Although its clinical significance is thus far unclear, Hb Izmir may be important in hemoglobinopathy screening programs.

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Hb Sarrebourg [β131(H9)Gln→Arg, CAG>CGG] in Turkey

Abstract: We describe Hb Sarrebourg [β131(H9)Gln→Arg, CAG>CGG] in four heterozygous members of a Turkish family. It was associated with iron deficiency in the proband.

Cited by 3 publications

References 1 publication

An Updated Review of Abnormal Hemoglobins in the Turkish Population

An Updated Review of Abnormal Hemoglobins in the Turkish Population

Molecular analysis of abnormal hemoglobins in beta chain in Aegean region of Turkey and first reports of hemoglobin Andrew-Minneapolis and Hb Hinsdale from Turkey

A New Hemoglobin Variant: Hb Izmir [β86(F2)Ala→Val, GCC>GTC; HBB:c.260C>T]

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