Prepair 1000+

Gene: TF

Green List (high evidence)

OMIM/mendeliome review: Atransferrinemia is characterized by microcytic anemia and by iron loading. It can be treated effectively by plasma infusions. Patients present with elevated serum ferritin, exceedingly low serum transferrin and typically Hemosiderosis of the heart and/or liver. Other features include Congestive heart failure.

PMID: 32028041: The clinical signs of CAT reported in the literature, are dominated by a severe hypochromic microcytic anemia. However, variability in clinical expression is reported. This variability concerns the age of onset of anemia and the age of blood transfusion (Table 1). Even though the majority of atransferrinemia patients were diagnosed in their infancy as in our case, some patients remain unrecognized until late childhood or adulthood (Heilmeyer et al., 1961). Given that total absence of Tf is incompatible with life (Bernstein, 1987), the clinical variability suggests that the CAT phenotype could be related to the severity of the reported mutations, other genetic determinants or environmental factors."

Created: 13 Dec 2024, 5:56 a.m. | Last Modified: 13 Dec 2024, 5:56 a.m.

Panel Version: 1.836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Atransferrinemia MIM#209300

Publications

• 32028041