Unexpected Genotype in a Non-Transfusion Dependent Thalassemia Family.
J Med Cases
; 11(4): 90-93, 2020 Apr.
Article
em En
| MEDLINE
| ID: mdl-34434372
ABSTRACT
Non-transfusion dependent thalassemia (NTDT) is an inherited hemoglobin disorder characterized by an α/non-α globin chain imbalance of variable severity, resulting in a wide spectrum of clinical manifestations. The coinheritance of additional α genes with a beta-thalassemia heterozygous mutation has a well-known negative effect. Triplication or quadruplication alone are mostly found by chance, but the coinheritance with ß mutations can worsen the very mild anemia to a more severe hematological and clinical phenotype causing NTDT, depending on the severity of beta mutations. We describe a case of a 38-year-old ß-thalassemia trait, pregnant woman at 33 weeks of gestation with supernumerary α-globin genes and two ß-globin defects.
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MEDLINE
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En
Ano de publicação:
2020
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Article