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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].

Authors :
Dainer E
Wenk RE
Luddy R
Elam D
Holley L
Kutlar A
Kutlar F
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.

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