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 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.
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
Related Documents :
646366 - Phototoxicity to a sunscreen ingredient. padimate a.
10995376 - Lipase-catalyzed modification of rice bran oil to incorporate capric acid.
368056 - Oxidative deamination of epsilon-aminolysine residues and formation of schiff base cros...
7972376 - Photoreactivity of chloramphenicol in vitro and in vivo.
7857976 - Quantification of the interactions among fatty acid, lysophosphatidylcholine, calcium, ...
6875606 - The sialic acid and galactose concentrations in erythrocyte membranes in patients with ...
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:  -    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Dementia Risk After Traumatic Brain Injury vs Nonbrain Trauma: The Role of Age and Severity.
Next Document:  Molecular Characterization and Phenotypical Study of ?-Thalassemia in Tucumán, Argentina.