Voxelotor Treatment Providing Transfusion Independence for Patient With Combined Sickle Cell Disease and Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA) Deficiency

We present a 22-year-old female with transfusion-dependent anemia due to sickle cell disease (SCD) with lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency whose treatment frequency was moderated with voxelotor (Oxbryta®). The patient was transfusion dependent, initially th...

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Detalles Bibliográficos
Autores principales: Larkin, Kelsey M, Sharma, Archana, Castro, Liz, Drachtman, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651152/
https://www.ncbi.nlm.nih.gov/pubmed/38021883
http://dx.doi.org/10.7759/cureus.47144
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author Larkin, Kelsey M
Sharma, Archana
Castro, Liz
Drachtman, Richard
author_facet Larkin, Kelsey M
Sharma, Archana
Castro, Liz
Drachtman, Richard
author_sort Larkin, Kelsey M
collection PubMed
description We present a 22-year-old female with transfusion-dependent anemia due to sickle cell disease (SCD) with lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency whose treatment frequency was moderated with voxelotor (Oxbryta®). The patient was transfusion dependent, initially thought to be secondary only to SCD. After the diagnosis of LRBA deficiency, her regimen included abatacept, sirolimus, hydroxyurea, and folic acid, but she still required intermittent transfusion. She was started on voxelotor in January 2020. Since initiation, her baseline hemoglobin level has increased and she is no longer transfusion dependent.
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spelling pubmed-106511522023-10-16 Voxelotor Treatment Providing Transfusion Independence for Patient With Combined Sickle Cell Disease and Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA) Deficiency Larkin, Kelsey M Sharma, Archana Castro, Liz Drachtman, Richard Cureus Pediatrics We present a 22-year-old female with transfusion-dependent anemia due to sickle cell disease (SCD) with lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency whose treatment frequency was moderated with voxelotor (Oxbryta®). The patient was transfusion dependent, initially thought to be secondary only to SCD. After the diagnosis of LRBA deficiency, her regimen included abatacept, sirolimus, hydroxyurea, and folic acid, but she still required intermittent transfusion. She was started on voxelotor in January 2020. Since initiation, her baseline hemoglobin level has increased and she is no longer transfusion dependent. Cureus 2023-10-16 /pmc/articles/PMC10651152/ /pubmed/38021883 http://dx.doi.org/10.7759/cureus.47144 Text en Copyright © 2023, Larkin et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Larkin, Kelsey M
Sharma, Archana
Castro, Liz
Drachtman, Richard
Voxelotor Treatment Providing Transfusion Independence for Patient With Combined Sickle Cell Disease and Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA) Deficiency
title Voxelotor Treatment Providing Transfusion Independence for Patient With Combined Sickle Cell Disease and Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA) Deficiency
title_full Voxelotor Treatment Providing Transfusion Independence for Patient With Combined Sickle Cell Disease and Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA) Deficiency
title_fullStr Voxelotor Treatment Providing Transfusion Independence for Patient With Combined Sickle Cell Disease and Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA) Deficiency
title_full_unstemmed Voxelotor Treatment Providing Transfusion Independence for Patient With Combined Sickle Cell Disease and Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA) Deficiency
title_short Voxelotor Treatment Providing Transfusion Independence for Patient With Combined Sickle Cell Disease and Lipopolysaccharide-Responsive and Beige-Like Anchor (LRBA) Deficiency
title_sort voxelotor treatment providing transfusion independence for patient with combined sickle cell disease and lipopolysaccharide-responsive and beige-like anchor (lrba) deficiency
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10651152/
https://www.ncbi.nlm.nih.gov/pubmed/38021883
http://dx.doi.org/10.7759/cureus.47144
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