Library of Variants - Laboratory Records

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Hb Sinai-Baltimore

Variation data: Beta 18(A15) Val-Gly

Case commentary:
• 72 year old male, known diabetic, request for HbA1c, fasting glucose 7.9mmol/L

Chromatography:

D100 A1c assay gave 3.1 % NGSP & 33mmol/mol, the chromatogram looked OK but
HbA1c peak was below another peak.

Other methods:

This sample was also tested using the Bio-Rad VARIANT II Beta Thal Short Program.
This showed an Hb variant of 37.8% with a RT of 2.58min running slightly slower than
HbA.

Sample referred to another lab for immunoassay HbA1c:

HBA1c . . . . . . . 6.4 % (< 6.0)

HbA1c . . . . . . . 46 mmol/mol (< 42)

Hematology and Clinical Presentation:

Known diabetic, slightly raised Hb (? caused by Hb variant)

CBC data:

HB 175 g/L
RCC 5.40 x 10^12/L
MCV 93 fL
PCV 0.500
RDW 14 %
MCH 32.5 pg
MCHC 351 g/L
ESR 2 mm/h
PLT 140 x 10^9/L

WBC 6.8 x 10^9/L

Neut 3.5 (1.8 - 7.5) " "
Lymph 2.4 (0.8 - 4.0) " "
Mono 0.8 (0.1 - 1.2) " "
Eosin 0.1 (< 0.7) " "

Ethnicity: Unknown

Other studies: Final identification of this sample performed by DNA

Beta Globin Sequencing
NG_000007.3(HBB):c.[56T>G,p.Val19Gly] ; [=]

DNA sequencing of the beta-globin gene has detected a heterozygous, single base
change (T>G) in amino acid 18 (18.2) of the mature protein. This results in an amino
acid change from Valine to Glycine (GTG>GGG) producing a mildly unstable variant of
no clinical significance. This result is consistent with Hb Sinai-Baltimore.

External links:

Case and Comments provided by:

Chris Smith, Western Diagnostic Pathology, Myaree, Perth, Western Australia

References: http://globin.bx.psu.edu/cgi-
bin/hbvar/query_vars3?mode=output&display_format=page&i=253&.cgifields=histD

Disclaimer: The chromatogram and data in this case report are actual laboratory
findings. Bio-Rad Laboratories, Inc. does not validate or confirm the sample data
included in this database. All information contained herein is for informational use only
and is not meant as a definitive identification of the hemoglobin genotype nor for
diagnostic purposes. We welcome your comments at hemoglobins@bio-rad.com