Document Detail


Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia.
MedLine Citation:
PMID:  25347256     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Abstract Hb Youngstown is a rare hemoglobin (Hb) variant caused by substitution of glutamic acid with alanine at amino acid residue 101 of the β-globin chain as a result of an A > C transversion on the β-globin gene nucleotide sequences [β101(G3)Glu → Ala; HBB: c.305A > C]. We now report three patients from two different families, one from South Africa and the other from Costa Rica, who are heterozygous for this Hb variant. All three carriers had marked hemolysis, consistent with Hb Youngstown being a highly unstable variant. The substitution of glutamic acid, a large and negatively charged amino acid, with alanine, a small and non polar amino acid, in the interface of the α1- and β2-globin subunits might interfere with the transition between the oxy- and deoxyHb, and lead to Hb instability and hemolytic anemia.
Authors:
Heather L Edward; Louis Almero Du Pisani; Walter E Rodriguez-Romero; Jorge Chaves-Villalobos; Jonielle Garcia-Quesada; Neil S Harris; Hong-Yuan Luo; Martin H Steinberg; Bernard G Forget; David H K Chui
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-27
Journal Detail:
Title:  Hemoglobin     Volume:  -     ISSN:  1532-432X     ISO Abbreviation:  Hemoglobin     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-27     Completed Date:  -     Revised Date:  2014-10-28    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  -    
Other Details:
Languages:  ENG     Pagination:  1-4     Citation Subset:  -    
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