open access

Vol 50, No 1 (2019)
Original Research Article / Praca Oryginalna
Published online: 2019-05-08
Submitted: 2018-07-25
Get Citation

Coexistence of hemoglobin Handsworth and alpha 3.7 kb deletion in Caucasian woman in Poland

Edyta Klimczak-Jajor, Joanna Skulimowska, Anna Ejduk, Katarzyna Guz, Małgorzata Uhrynowska, Ewa Brojer
DOI: 10.2478/ahp-2019-0004
·
Acta Haematol Pol 2019;50(1):21-24.

open access

Vol 50, No 1 (2019)
Original Research Article / Praca Oryginalna
Published online: 2019-05-08
Submitted: 2018-07-25

Abstract

Background

This report presents a case of an adult Polish women of Caucasian origin who was heterozygous for the nondeletional mutation: Hb Handsworth (HBA2 or HBA1: c.55G > C, p.Gly19Arg) and deletional (-α) α-thalassemia mutation.

Methods

The HbA and HbF levels were measured by microcolumn chromatography and alkaline denaturation procedure, respectively, while electrophoresis was used to detect pathological hemoglobin fraction. The β- and α-globin genotypes were determined by DNA sequencing, gap-polymerase chain reaction, α gene triplication and MLPA.

Results

The HbA and HbF levels were normal, but hemoglobin electrophoresis on agarose gel alkaline pH showed a strong band migration in a position of hemoglobin S and faint bands in the neighborhood of band A on acid electrophoresis. Molecular analysis of the alpha globin cluster detected a point mutation at codon 19 in (c.55G > C, p.Gl- y19Arg) and deletion -α.

Conclusions

Our compound heterozygosity does not produce severe clinical or hematological symptoms but it is important to say that in our part of Europe such cases do appear. Molecular analysis of the alpha globin cluster is required for correct diagnosis in patients with normal HbA levels. Compound heterozygosity was unmasked by molecular diagnosis only.

Abstract

Background

This report presents a case of an adult Polish women of Caucasian origin who was heterozygous for the nondeletional mutation: Hb Handsworth (HBA2 or HBA1: c.55G > C, p.Gly19Arg) and deletional (-α) α-thalassemia mutation.

Methods

The HbA and HbF levels were measured by microcolumn chromatography and alkaline denaturation procedure, respectively, while electrophoresis was used to detect pathological hemoglobin fraction. The β- and α-globin genotypes were determined by DNA sequencing, gap-polymerase chain reaction, α gene triplication and MLPA.

Results

The HbA and HbF levels were normal, but hemoglobin electrophoresis on agarose gel alkaline pH showed a strong band migration in a position of hemoglobin S and faint bands in the neighborhood of band A on acid electrophoresis. Molecular analysis of the alpha globin cluster detected a point mutation at codon 19 in (c.55G > C, p.Gl- y19Arg) and deletion -α.

Conclusions

Our compound heterozygosity does not produce severe clinical or hematological symptoms but it is important to say that in our part of Europe such cases do appear. Molecular analysis of the alpha globin cluster is required for correct diagnosis in patients with normal HbA levels. Compound heterozygosity was unmasked by molecular diagnosis only.

Get Citation

Keywords

α-thalassemia; Hb Handsworth; Alpha 3.7 kb deletion

About this article
Title

Coexistence of hemoglobin Handsworth and alpha 3.7 kb deletion in Caucasian woman in Poland

Journal

Acta Haematologica Polonica

Issue

Vol 50, No 1 (2019)

Pages

21-24

Published online

2019-05-08

DOI

10.2478/ahp-2019-0004

Bibliographic record

Acta Haematol Pol 2019;50(1):21-24.

Keywords

α-thalassemia
Hb Handsworth
Alpha 3.7 kb deletion

Authors

Edyta Klimczak-Jajor
Joanna Skulimowska
Anna Ejduk
Katarzyna Guz
Małgorzata Uhrynowska
Ewa Brojer

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk, Poland
tel.:+48 58 320 94 94, fax:+48 58 320 94 60, e-mail: journals@viamedica.pl