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Further observation of Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in a Turkish family

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Open Access

Further observation of Hemoglobin

Fontainebleau (a21(B2) Ala-Pro) in a Turkish

family

Nejat Akar

1

, Serdar Ceylaner

2

, Yasemin Ardicoglu Akisin

3*

and Gokce Su Tastan

4

To the Editor,

Several hemoglobin (Hb) variants have been reported

in Turkish population [

1

3

]. Herein, we represent a

nu-cleotide

alteration

of

the

alpha-2

chain

variant,

Hemoglobin Fontainebleau (a21(B2) Ala-Pro) in an

8-year-old male Turkish child living in Ankara, Turkey.

He was admitted to the Hospital Pediatrics Department

for routine check-up. His physical examination was

nor-mal, and there was no positive consanguinity between

his parents. High red blood cell count and low mean

corpuscular volume were detected in complete blood

count (CBC) (Fig.

1

a). High-performance liquid

chroma-tography (HPLC) showed an asymmetry (shoulder

forma-tion) in the descending part of A0 and in the A2 curve.

Levels of HbA, HbA2, and HbF were observed as 93.25%,

3.55%, and 1.07%, respectively (Fig.

1

a). His mother and

6-year-old sister were also screened. Their HPLC

chromato-grams showed similar pattern (Fig.

1

b, c).

Sequence analysis of HBA1 and HBA2 genes were

per-formed by using MiSeq next-generation sequencing

(NGS) platform (Illumina, San Diego, CA, USA).

Gen-omic DNA was extracted by using the QIAamp DNA

Blood Midi Kit (Qiagen, Hilden, Germany). All coding

regions and exon-intron boundaries of the genes were

amplified using PCR primers, designed with

PRIMER©-Primer Designer v.2.0 (Scientific & Educational Software

programme) software. Alignment was done by using

hg19 genome with MiSeq Reporter software (Illumina

Inc.), and analysis was done with IGV 2.3 (Broad

Insti-tute) software. These genes were also tested for common

deletions with MLPA (multiplex ligation-dependent

probe amplification) method (SALSA MLPA P140 HBA

probemix, MRC Holland, Amsterdam, Holland). NM_

000558.5(HBA1):c.64G>C (p.Ala22Pro) was detected by

sequence analysis while MLPA test was normal (Fig.

1

a,

b).

Written informed consent for genetic analysis was

ob-tained both from the child

’s parents and from the

mother.

Hemoglobin Fontainebleau (a21(B2) Ala-Pro) is a rarely

reported hemoglobin variant. It was first reported in an

Italian family without DNA analysis in 1989 and later on

in India, Canada, South Cyprus, United Arab Emirates,

Iraq (family living in New Zealand), and Turkey. It was

described as a silent mutation and was also reported in

combination with heterozygote forms of sickle cell,

hereditary spherocytosis, and Hb Punjab [

1

,

4

6

].

It is interesting that the cases identified were on

his-torical migration routes. Since Turkey is located at the

intersection of two continents, it is not surprising that

many different hemoglobin variants are observed.

Fur-ther observation of Hb Fontainebleau (a21(B2) Ala-Pro)

suggests that this variant is found sporadically in the

Turkish population.

© The Author(s). 2020 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

* Correspondence:yardicoglu@gmail.com

3Department of Biochemistry, Faculty of Medicine, TOBB Economy and

Technology University, Yasam Cad. No5 Sogutozu, 06510 Ankara, Turkey Full list of author information is available at the end of the article

Egyptian Journal of Medical

Human Genetics

Akar et al. Egyptian Journal of Medical Human Genetics (2020) 21:3

(2)

Abbreviations

CBC:Complete blood count; Hb: Hemoglobin; HPLC: High-performance liquid chromatography; MLPA: Multiplex ligation-dependent probe amplifica-tion; NGS: Next-generation sequencing

Acknowledgements Not applicable. Authors’ contributions

NA contributed to the clinical diagnosis and reviewing of the manuscript. SC contributed to the sequence analysis. YAA contributed to the drafting and reviewing of the manuscript. GST contributed to the drafting of the manuscript. All authors have read and approved the final manuscript. Funding

No funding was received. Availability of data and materials

The authors can confirm that all relevant data are included in the manuscript. Ethics approval and consent to participate

Each author has participated sufficiently in the work to take public responsibility for the content, and also, the authors had no conflict of interest to declare in relation to this manuscript. As it was a retrospective study, ethics approval was not taken.

Consent for publication

Written informed consent for genetic analysis and publication was obtained from the patient’s family.

Competing interests

The authors declare that they have no competing interests.

Author details

1Department of Pediatrics, Faculty of Medicine, TOBB Economy and

Technology University, Ankara, Turkey.2Intergen Genetic Centre, Ankara, Turkey.3Department of Biochemistry, Faculty of Medicine, TOBB Economy

and Technology University, Yasam Cad. No5 Sogutozu, 06510 Ankara, Turkey.

4Gokce Su TASTAN, TOBB Economy and Technology University, Faculty of

Medicine, 5th year Student, Ankara, Turkey.

Received: 5 October 2019 Accepted: 9 January 2020

References

1. Altay C (2002) Abnormal hemoglobins in Turkey. Turk J Haematol 19:63–74 2. Akar E, Akar N (2007) A review of abnormal hemoglobins in Turkey. Turk J Hematol

24:143–145

3. Akar N (2014) An updated review of abnormal hemoglobins in the Turkish population. Turk J Haematol 31(1):97–98

4. Wajcman H, Blouquit Y, Gombaud-Daintonge G, Riou J, Galacteros F (1989) Hb Fontainebleau alpha 21(B2)Ala–Pro, a new silent mutant hemoglobin. Hemoglobin 13:421

5. Upadhye DS, Jain D, Nair SB, Nadkarni AH, Ghosh K, Colah RB (2012) First case of Hb Fontainebleau with sickle haemoglobin and other non-deletionalα gene variants identified in neonates during newborn screening for sickle cell disorders. J Clin Pathol 65:654–659

6. Rodríguez-Capote K, Estey MP, Barakauskas V, Bordeleau P, Christensen CL, Zuberbuhler P, Higgins TN (2015) A novel double heterozygous Hb

Fontainebleau/HbD Punjab hemoglobinopathy. Clin Biochem 48(13–14):904–907

Publisher’s Note

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Fig. 1 CBC, HPLC chromatograms, and HBA2 gene. The figure includes the HPLC histograms and HBA2 gene sequence analysis below the complete blood count and ferritin levels of the patient (a), his mother (b), and sister (c). The asymmetry (shoulder formation) in the descending part of A0 and in the A2 curve was indicated with an arrow on the chromatogram

Şekil

Fig. 1 CBC, HPLC chromatograms, and HBA2 gene. The figure includes the HPLC histograms and HBA2 gene sequence analysis below the complete blood count and ferritin levels of the patient (a), his mother (b), and sister (c)

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