A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1.
Cancer Genet
; 260-261: 53-56, 2022 01.
Article
en En
| MEDLINE
| ID: mdl-34330696
ABSTRACT
A 60-year-old male with myelodysplastic syndrome with excess blasts-1 had unexplained microcytic hypochromic anemia. The cause of his anemia was revealed on supravital staining, hemoglobin studies and next-generation sequencing to be a novel hemizygous potentially pathogenic missense/splice site variant NM_000489.5c.6848A>C, (p.Lys2283Thr) in exon 31 of the ATRX gene.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndromes Mielodisplásicos
/
Talasemia alfa
/
Proteína Nuclear Ligada al Cromosoma X
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Anemia Hipocrómica
Tipo de estudio:
Etiology_studies
Límite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Cancer Genet
Año:
2022
Tipo del documento:
Article
País de afiliación:
India