1.
Gene
; 895: 147981, 2024 Feb 15.
Article
in English
| MEDLINE
| ID: mdl-37951373
ABSTRACT
The study highlights genomic findings in a series of 13 IRIDA phenotype cases. All had microcytic hypochromic anemia with suboptimal oral iron response to two different oral iron preparations at 4-6 weeks and low-normal ferritin, low transferrin saturation, and inappropriately high hepcidin. Targeted NGS on a 26-gene iron panel revealed pathogenic TMPRSS6 variants in 5/13 (38 %) cases. In addition, 2 (15 %) cases revealed rare SMAD4 and TBXAS1 gene variants that can present with refractory anemia but were consistent with diagnosis of hereditary hemorrhagic telangiectasia and Ghosal hematodiaphyseal dysplasia respectively.
Subject(s)
Anemia, Iron-Deficiency , Humans , Anemia, Iron-Deficiency/genetics , Phenotype , Iron , Hepcidins , Genomics , Rare Diseases , Membrane Proteins/genetics , Serine Endopeptidases/genetics
2.
Pediatr Blood Cancer
; 66(2): e27527, 2019 02.
Article
in English
| MEDLINE
| ID: mdl-30378271
Subject(s)
Leukemia, Myeloid, Acute/genetics , Myelodysplastic Syndromes/genetics , Noonan Syndrome/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics , Child , Female , Humans , Leukemia, Myeloid, Acute/pathology , Mutation , Myelodysplastic Syndromes/pathology , Noonan Syndrome/pathology
3.
Am J Med Genet A
; 170(9): 2486-9, 2016 09.
Article
in English
| MEDLINE
| ID: mdl-27271431