A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1.

Mallik, Nabhajit; Singh, Namrata; Jamwal, Manu; Chhabra, Sanjeev; Hira, Jasbir Kaur; Malhotra, Pankaj; Das, Reena; Sharma, Prashant

Mallik, Nabhajit; Singh, Namrata; Jamwal, Manu; Chhabra, Sanjeev; Hira, Jasbir Kaur; Malhotra, Pankaj; Das, Reena; Sharma, Prashant.

Afiliación

Mallik N; Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Singh N; Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Jamwal M; Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Chhabra S; Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Hira JK; Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Malhotra P; Adult Clinical Hematology Unit, Department of Internal Medicine, Nehru Hospital, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Das R; Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Sharma P; Department of Hematology, Postgraduate Institute of Medical Education & Research, Chandigarh, India. Electronic address: sharma.prashant@pgimer.edu.in.

Cancer Genet ; 260-261: 53-56, 2022 01.

Article en En | MEDLINE | ID: mdl-34330696

ABSTRACT

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.

Asunto(s)

Anemia Hipocrómica/genética; Síndromes Mielodisplásicos/genética; Proteína Nuclear Ligada al Cromosoma X/genética; Talasemia alfa/diagnóstico; Empalme Alternativo; Anemia Hipocrómica/etiología; Resultado Fatal; Hemoglobina H/metabolismo; Secuenciación de Nucleótidos de Alto Rendimiento; Humanos; Masculino; Persona de Mediana Edad; Mutación Missense; Síndromes Mielodisplásicos/complicaciones; Talasemia alfa/complicaciones; Talasemia alfa/genética

Palabras clave

ATRX; Acquired HbH disease; Hemoglobinopathy; Myelodysplastic syndrome with excess blasts-1 (NCI Thesaurus Code C7167); Supravital staining; Thalassemia

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Mielodisplásicos / Talasemia alfa / Proteína Nuclear Ligada al Cromosoma X / 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

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