Double trouble: A case of fraternal twins with iron-refractory iron-deficiency anemia.
Clin Case Rep
; 10(10): e6401, 2022 Oct.
Article
em En
| MEDLINE
| ID: mdl-36254154
ABSTRACT
Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal recessive disease that presents in childhood. We report the case of fraternal twins presenting with severe hypochromic microcytic anemia and hypoferritinemia. Two missense mutations affecting the TRMPSS6 gene were identified, consistent with IRIDA. Subsequent parenteral iron therapy improved clinical and blood parameters.
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Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article