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Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 6
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Two New Hemoglobin Variants: Hb Sinai-Greenspring [β34(B16)Val→Ile, GTC > ATC] and Hb Sinai-Bel Air [β53(D4)Ala→Asp, GCT > GAT]

Erin Dainer Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USA
,
Robert E. Wenk Department of Pathology, Sinai Hospital of Baltimore, Baltimore, MD, USA
,
Ruth Luddy Department of Pediatrics, Sinai Hospital of Baltimore, Baltimore, MD, USA
,
Dedrey Elam Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USA
,
Leslie Holley Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USA
,
Abdullah Kutlar Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USA
&
Ferdane Kutlar Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA, USACorrespondence[email protected]
 show all
Pages 588-591 | Received 06 May 2008, Accepted 04 Jun 2008, Published online: 07 Jul 2009
 
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Abstract

Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different β 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 β-globin genes. Functional studies could not be performed at this time.

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