Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis.
Hemoglobin
; 48(1): 30-33, 2024 Jan.
Article
en En
| MEDLINE
| ID: mdl-38198563
ABSTRACT
Unstable variant hemoglobinopathies are an uncommon cause of hemolysis in the pediatric patient and may cause a delay in diagnosis if there is not a high index of suspicion. Hemoglobin (Hb) Mizuho is a rare unstable hemoglobinopathy caused by a pathogenic variant of the HBB gene with a severe phenotype. Here we report on the first known case of Hb Mizuho in Australia, presenting with features of acute and chronic hemolysis. The morphological features on blood film review, in conjunction with biochemical findings and other clinical features, did not immediately suggest an alternative diagnosis and a Next Generation Sequencing gene analysis approach was taken to investigate genes associated with red blood cell disorders and atypical uremic syndrome. The HBB Mizuho variant was detected and established the diagnosis. This report highlights the challenge of diagnosing Hb Mizuho on conventional testing and the need for early genomic testing to clarify a diagnosis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Hemoglobinas Anormales
/
Hemoglobinopatías
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
Hemoglobin
Año:
2024
Tipo del documento:
Article
País de afiliación:
Australia