ScholarLens Back to search
2008•HematologyOpen access

Sickle cell disease in a carrier with pyruvate kinase deficiency

N Alli, M Coetzee, Vernon Louw, Ben van Rensburg, Gerrit Rossouw, L. Thompson, Serge Pissard, Swee Lay Thein

Open full text 23 citations

Abstract

We report a case of sickle cell disease (SCD) in a patient who is a carrier for the sickle mutation with no additional mutations in the beta globin genes. Sequencing of the PK-LR genes showed that she was also heterozygous for the L272V mutation in exon 7, which is known to cause pyruvate kinase (PK) deficiency. It appeared that sickling in the heterozygous state is related to decreased oxygen affinity associated with PK deficiency in this unusual case.

Open-access reader

About this research paper

What this paper is about

We report a case of sickle cell disease (SCD) in a patient who is a carrier for the sickle mutation with no additional mutations in the beta globin genes. Sequencing of the PK-LR genes showed that she was also heterozygous for the L272V mutation in exon 7, which is known to cause pyruvate kinase (PK) deficiency. It appeared that sickling in the heterozygous state is related to decreased oxygen affinity associated with PK deficiency in this unusual case.

Why it matters

OpenAlex reports 23 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

We report a case of sickle cell disease (SCD) in a patient who is a carrier for the sickle mutation with no additional mutations in the beta globin genes. Sequencing of the PK-LR genes showed that she was also heterozygous for the L272V mutation in exon 7, which is known to cause pyruvate kinase (PK) deficiency. It appeared that sickling in the heterozygous state is related to decreased oxygen affinity associated with PK deficiency in this unusual case.

Key concepts: Pyruvate kinase deficiency, Pyruvate kinase, Mutation, Heterozygote advantage, Exon, Gene, Hemolytic anemia, Hemoglobinopathy

Related papers

Related paper 1Related paper 2Related paper 3
Back to paper searchBrowse research topicsOriginal source
Sickle cell disease in a carrier with pyruvate kinase deficiency — Research Paper | ScholarLens