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Two new hemoglobin variants: Hb Sinai-Greenspring [beta34(B16)Val-->Ile, GTC > ATC] and Hb Sinai-Bel Air [beta53(D4)Ala-->Asp, GCT > GAT].
- Source :
-
Hemoglobin [Hemoglobin] 2008; Vol. 32 (6), pp. 588-91. - Publication Year :
- 2008
-
Abstract
- Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different beta chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified beta-globin genes. Functional studies could not be performed at this time.
- Subjects :
- Alanine chemistry
Alanine genetics
Amino Acid Substitution
Aspartic Acid chemistry
Aspartic Acid genetics
Base Sequence
Child, Preschool
Chromatography, High Pressure Liquid
Humans
Infant
Isoleucine chemistry
Isoleucine genetics
Male
Molecular Sequence Data
Valine chemistry
Valine genetics
beta-Globins chemistry
Mutation
beta-Globins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1532-432X
- Volume :
- 32
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 19065337
- Full Text :
- https://doi.org/10.1080/03630260802507931