Hemoglobin (Hb) Görwihl or α2β25 (A2)
Pro→Ala, also known as Hb Hinchingbrooke is a
rare Hb variant that was previously defined in 2 Ger-
man families.
1-3
It is the heterozygote mutation at
codon 5 of the β-globin gene causing cytosine to gua-
nine transversion and replacement of proline amino
acid by alanine (CCT-GCT).
2
Hb Görwihl shows a similar electrophoretic ac-
tion with HbA and variant Hb accounts for 43.7% of
the total. It is a silent mutation and patients don’t
show any symptoms or clinical abnormalities.
2
Dur-
ing cation-exchange high-performance liquid chro-
matography (CE-HPLC) method with Bio-Rad
(Bio-Rad Laboratories, USA) Variant it is eluted with
HbA. In the Globin Gene Server, Hb Görwihl is 1
st
identified in 2001 by Giardine et al. and no case was
reported after Bissé et al.’s case which was reported
in 2002, Germany.
2,4
CASE REPORT
A 22-years old Caucasian Turkish male patient was
admitted to the family health center for hemoglo-
binopathy screening before marriage. He was
healthy and his physical investigations were unre-
markable. He hadn’t any complaint or chronic dis-
ease and didn’t use any medication. His family
migrated from Bulgaria in 1950 and his parents
were diabetic. In terms of the Hemoglobinopathy
Prevention Program premarital thalassemia screen-
ing was performed at Dr. Lütfi Kırdar Kartal City
Hospital. Besides HbA0 [Retention Time (RT):
4.628 min., 46.4%] and HbA2 (RT: 5.563 min.,
3.2%); an abnormal unidentified Hb peak (RT:
4.950 min., 42.4%) was determined at Premier Res-
olution (Trinity-Biotech) by CE-HPLC (Figure
1A).
Turkiye Klinikleri J Case Rep. 2022;30(2):91-4
91
The First Case of Hemoglobin Görwihl [α2β25(A2) Pro→Ala]
Identified in Türkiye
Özlem ÇAKIR MADENCİ
a
, Fatma ERDOĞMUŞ
a
, Asuman ORÇUN
a
, Berk ÖZYILMAZ
b
a
Kartal Dr. Lütfi Kırdar City Hospital, Biochemistry Laboratory, İstanbul, Türkiye
b
University of Health Sciences Tepecik Training and Research Hospital, Genetic Diseases Diagnosis Center, İzmir, Türkiye
ABSTRACT We present the first individual with hemoglobin (Hb) Görwihl in Türkiye and to our knowledge, this is the 3
rd
case reported world-
wide. During premarital thalassemia screening an abnormal unidentified Hb peak [Retention Time (RT): 4.950 min., 42.4%] was determined by
cation-exchange high-performance liquid chromatography (CE-HPLC) method at Premier Resolution (Trinity-Biotech) system. Variant Hb was
eluted with HbA (RT: 2.47 min., 82%) at Variant II Turbo, Bio-Rad system. He was 22 years old and didn’t show any clinical symptoms or haema-
tological abnormality. HbA1c measured with Boronate affinity method at (Premier Hb9210, Trinity-Biotech) system was 5.2% and consistent with
his blood glucose value (5.5 mmol/L) while it was 4.6% with CE-HPLC method at Variant II Turbo system. β-globulin gene sequencing revealed
a heterozygote codon c16C>C variant which was identical to Hb Görwihl. Although clinically insignificant, Hb Görwihl may be important in
hemoglobinopathy screening and HbA1c measurements.
Keywords: Hemoglobins; abnormal hemoglobins; glycated hemoglobin A1c
DOI: 10.5336/caserep.2021-86119
CASE REPORT
Correspondence: Özlem ÇAKIR MADENCİ
Kartal Dr. Lütfi Kırdar City Hospital, Biochemistry Laboratory, İstanbul, Türkiye
E-mail: ocmadenci@hotmail.com
Peer review under responsibility of Turkiye Klinikleri Journal of Case Reports.
Received: 07 Sep 2021 Received in revised form: 15 Oct 2021 Accepted: 21 Oct 2021 Available online: 26 Oct 2021
2147-9291 / Copyright © 2022 by Türkiye Klinikleri. This is an open
access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Turkiye Klinikleri Journal of Internal Medicine
Türkiye Klinikleri Journal of Case Reports