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A new stable alpha chain variant: Hb Basel [alpha14(A12)Trp-->Leu (alpha1)].
- Source :
-
Hemoglobin [Hemoglobin] 2010 Jun; Vol. 34 (3), pp. 327-31. - Publication Year :
- 2010
-
Abstract
- We describe a heterozygosity for a new missense mutation on the alpha1-globin gene of an 18-year-old woman of Portuguese ancestry with severe hypochromic anemia and iron deficiency. Hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) found a prominent peak constituting about 12% of total Hb. Sequencing of the globin genes of the index patient found the mutation alpha14(A12)Trp-->Leu (alpha1), HBA1:c.44G<T. We identified the same mutation in blood and DNA of the mother, which provides evidence that the variant is stable and does not have direct pathophysiological or hematological consequences.
Details
- Language :
- English
- ISSN :
- 1532-432X
- Volume :
- 34
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 20524822
- Full Text :
- https://doi.org/10.3109/03630269.2010.483960