RESUMEN
We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (HBB: c.194G>T) that causes severe hemolytic anemia and dyserythorpoietic, resulting in transfusion dependence and iron overload. The molecular pathogenesis is a missense variation on the ß-globin gene, presumed to lead to an unstable Hb. The phenotype of Hb Calgary is particularly severe presenting as transfusion-dependent anemia in early infancy, precluding phenotypic diagnosis and highlighting the importance of early genetic testing in order to make an accurate diagnosis.
Asunto(s)
Hemoglobinas Anormales , Talasemia beta , Hemoglobinas Anormales/genética , Heterocigoto , Humanos , Fenotipo , Globinas beta/genética , Talasemia beta/diagnóstico , Talasemia beta/genéticaAsunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Trasplante de Células Madre Hematopoyéticas , Mieloma Múltiple/diagnóstico , Mieloma Múltiple/terapia , Neoplasia Residual/patología , Acondicionamiento Pretrasplante , Bortezomib/administración & dosificación , Humanos , Melfalán/administración & dosificación , Mieloma Múltiple/mortalidad , Resultado del TratamientoRESUMEN
Although plasma cell disorders, such as hypergammaglobulinemia and monoclonal gammopathy of undetermined significance (MGUS), are reported to occur at higher incidences in patients with Type I Gaucher disease (GD) than in the normal population, pure light chain multiple myeloma (LCMM) has never been described in this context. Our case is the first to highlight a patient with LCMM who developed clinically apparent GD only following chemotherapy and hematopoietic stem cell transplantation. Renal complications are also exceedingly rare in GD, but nephrotic syndrome is one of the presenting features in this patient. The findings from this case will have important screening and diagnostic implications for both clinicians and patients.
