Early Onset of Severe Anemia Caused by Hb Calgary (<i>HBB</i>: C.194G > T): Another Case Report.

Jiang, Hua; Li, Dong-Zhi

Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report.

Jiang, Hua; Li, Dong-Zhi.

Afiliación

Jiang H; Department of Hematology/Oncology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong Province, People's Republic of China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong province, People's Republic of China.

Hemoglobin ; 48(2): 118-120, 2024 Mar.

Article en En | MEDLINE | ID: mdl-38344813

ABSTRACT

ABSTRACT

Unstable hemoglobin (Hb) variants are a rare cause of congenital hemolytic anemia. We describe a Chinese girl who presented with transfusion-dependent anemia in early infancy. Her diagnosis of Hb Calgary [ß64(E8)Gly > Val; HBBc.194G > T] was not made until molecular testing was performed at the age of 5 years. Our case highlights the importance of early genetic testing in order to make the diagnosis, which may not only be useful for patient management and family counseling, but also for avoiding further unnecessary investigative attempts.

Asunto(s)

Hemoglobinas Anormales; Preescolar; Femenino; Humanos; Anemia Hemolítica Congénita/genética; Anemia Hemolítica Congénita/diagnóstico; Anemia Hemolítica Congénita/complicaciones; Pruebas Genéticas; Hemoglobinas Anormales/genética; Mutación

Palabras clave

Hb Calgary; Hemoglobinopathies; hemolytic anemia; unstable hemoglobin (Hb)

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hemoglobinas Anormales Límite: Child, preschool / Female / Humans Idioma: En Revista: Hemoglobin Año: 2024 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google