Hb M Dothan [β 25/26 (B7/B8)/(GGT/GAG→GAG//Gly/Glu→Glu]; a new mechanism of unstable methemoglobin variant and molecular characteristics

Ferdane Kutlar; L. M. Hilliard; L. Zhuang; N. Patel; Binnur Eroglu; Steffen E Meiler; H. Carmichael; R. B. Russell; Abdullah Kutlar

doi:10.1016/j.bcmd.2009.08.006

Hb M Dothan [β 25/26 (B7/B8)/(GGT/GAG→GAG//Gly/Glu→Glu]; a new mechanism of unstable methemoglobin variant and molecular characteristics

Ferdane Kutlar, L. M. Hilliard, L. Zhuang, N. Patel, Binnur Eroglu, Steffen E Meiler, H. Carmichael, R. B. Russell, Abdullah Kutlar

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

A new unstable β globin chain variant associated with methemoglobin (Met-Hb) phenotype was found in a Caucasian infant. Molecular analysis of the β globin gene using polymerase chain reaction (PCR) amplification and sequencing led to the detection of a new in frame deletion in exon-1. Direct sequencing of the PCR product revealed a 3 bp deletion (-GTG) between codons 25/26, which resulted in the loss of a single amino acid (-Gly). We propose that this newly discovered unstable M-hemoglobin (M-Hb) variant, named Hb Dothan [GGT/GAG→GAG//Gly/Glu→Glu], is caused by a shift in the amino acid sequence and altered packing of the B and E helices during β globin synthesis, and also changes the orientation of the critical proximal and distal histidine in the F and E helices respectively. Phenotype/Genotype features and molecular characteristics of this new beta chain are presented in this communication.

Original language	English (US)
Pages (from-to)	235-238
Number of pages	4
Journal	Blood Cells, Molecules, and Diseases
Volume	43
Issue number	3
DOIs	https://doi.org/10.1016/j.bcmd.2009.08.006
State	Published - Nov 2009

Keywords

Amino acid deletion
Cyanosis
M-hemoglobin
Methemoglobin
Unstable beta chain variant

ASJC Scopus subject areas

Molecular Medicine
Molecular Biology
Hematology
Cell Biology

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Kutlar, F., Hilliard, L. M., Zhuang, L., Patel, N., Eroglu, B., Meiler, S. E., Carmichael, H., Russell, R. B., & Kutlar, A. (2009). Hb M Dothan [β 25/26 (B7/B8)/(GGT/GAG→GAG//Gly/Glu→Glu]; a new mechanism of unstable methemoglobin variant and molecular characteristics. Blood Cells, Molecules, and Diseases, 43(3), 235-238. https://doi.org/10.1016/j.bcmd.2009.08.006

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abstract = "A new unstable β globin chain variant associated with methemoglobin (Met-Hb) phenotype was found in a Caucasian infant. Molecular analysis of the β globin gene using polymerase chain reaction (PCR) amplification and sequencing led to the detection of a new in frame deletion in exon-1. Direct sequencing of the PCR product revealed a 3 bp deletion (-GTG) between codons 25/26, which resulted in the loss of a single amino acid (-Gly). We propose that this newly discovered unstable M-hemoglobin (M-Hb) variant, named Hb Dothan [GGT/GAG→GAG//Gly/Glu→Glu], is caused by a shift in the amino acid sequence and altered packing of the B and E helices during β globin synthesis, and also changes the orientation of the critical proximal and distal histidine in the F and E helices respectively. Phenotype/Genotype features and molecular characteristics of this new beta chain are presented in this communication.",

keywords = "Amino acid deletion, Cyanosis, M-hemoglobin, Methemoglobin, Unstable beta chain variant",

author = "Ferdane Kutlar and Hilliard, {L. M.} and L. Zhuang and N. Patel and Binnur Eroglu and Meiler, {Steffen E} and H. Carmichael and Russell, {R. B.} and Abdullah Kutlar",

year = "2009",

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doi = "10.1016/j.bcmd.2009.08.006",

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AU - Kutlar, Ferdane

AU - Hilliard, L. M.

AU - Zhuang, L.

AU - Patel, N.

AU - Eroglu, Binnur

AU - Meiler, Steffen E

AU - Carmichael, H.

AU - Russell, R. B.

AU - Kutlar, Abdullah

PY - 2009/11

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AB - A new unstable β globin chain variant associated with methemoglobin (Met-Hb) phenotype was found in a Caucasian infant. Molecular analysis of the β globin gene using polymerase chain reaction (PCR) amplification and sequencing led to the detection of a new in frame deletion in exon-1. Direct sequencing of the PCR product revealed a 3 bp deletion (-GTG) between codons 25/26, which resulted in the loss of a single amino acid (-Gly). We propose that this newly discovered unstable M-hemoglobin (M-Hb) variant, named Hb Dothan [GGT/GAG→GAG//Gly/Glu→Glu], is caused by a shift in the amino acid sequence and altered packing of the B and E helices during β globin synthesis, and also changes the orientation of the critical proximal and distal histidine in the F and E helices respectively. Phenotype/Genotype features and molecular characteristics of this new beta chain are presented in this communication.

KW - Amino acid deletion

KW - Cyanosis

KW - M-hemoglobin

KW - Methemoglobin

KW - Unstable beta chain variant

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Hb M Dothan [β 25/26 (B7/B8)/(GGT/GAG→GAG//Gly/Glu→Glu]; a new mechanism of unstable methemoglobin variant and molecular characteristics

Abstract

Keywords

ASJC Scopus subject areas

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