Three new alpha-globin variants: Hb Itapira [alpha30(B11)Glu--Val (alpha1)], Hb Bom Jesus Da Lapa [alpha30(B11)Glu--Ala (alpha1)] and Hb Boa Esperança [alpha16(A14)Lys--Thr (alpha2)]

Autor:	Susan E Costa, Jorge, Elza M, Kimura, Denise M, Oliveira, Satie, Ogo, Dulcinéia M, Albuquerque, Fernando F, Costa, Maria de Fátima, Sonati
Rok vydání:	2007
Předmět:	Adult Male Amino Acid Substitution Base Sequence Hemoglobins Abnormal Genetic Variation Humans Female DNA Middle Aged Polymorphism Single Nucleotide Brazil Globins
Zdroj:	Hemoglobin. 31(2)
ISSN:	0363-0269
Popis:	Three novel alpha-globin variants were found during a screening program for hemoglobinopathies in blood donors at the UNICAMP Hematology and Hemotherapy Center, Campinas, State of São Paulo, Southeastern Brazil. They were named for the town of origin of the carrier as Hb Itapira [alpha30(B11)Glu--Val], Hb Bom Jesus da Lapa [alpha30(B11)Glu--Ala] and Hb Boa Esperança [alpha16(A14)Lys--Thr]. Hb Itapira, like Hb Bom Jesus da Lapa, shows an electrophoretic mobility similar to that of Hb S [beta6(A3)GluVal, GAG--GTG] at alkaline pH; it is associated with a triplicate alpha-globin allele (alphaalphaalpha(anti 3.7)) and corresponds to only 5.5% of the total hemoglobin (Hb). Hb Boa Esperança, found in two different individuals, moves faster than Hb A and exhibits an abnormal functional performance.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::f4be37d59a1060dc43b00e5007450816 https://pubmed.ncbi.nlm.nih.gov/17486496 Zobrazit plný text záznamu