Back to Search
Start Over
Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser--Tyr] and Hb Passy [alpha81(F2)Ser--Pro (alpha2)]
- Source :
- Hemoglobin. 29(1)
- Publication Year :
- 2005
-
Abstract
- Two new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TCT--TAT); beta9(A6)Ser--Tyr] on the first exon of the beta-globin gene and Hb Passy [codon 81 (TCC--CCC); alpha81(F2)Ser--Pro (alpha2)] on the second exon of the alpha2-globin gene, are described. The two variants were characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities: microcytosis and hypochromia were found only in the carrier of Hb Passy. In the absence of an association with an alpha-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible alpha-thalassemia (thal).
Details
- ISSN :
- 03630269
- Volume :
- 29
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Hemoglobin
- Accession number :
- edsair.pmid..........fe2df245c5c96de58ba5ccde0200398c