Table 4. [Treatment of Manifestations in Individuals with Congenital Dyserythropoietic Anemia Type I]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Anemia	Intramuscular or subcutaneous injections of IFN- _α2a or IFN- _α2b given 2-3x/wk or peginterferon-_α2b 1x/wk [Abu-Quider et al 2020] Treatment should be given by a physician experienced in IFN administration.	Treatment ↑ hemoglobin & ↓ iron overload in majority of those treated [Lavabre-Bertrand et al 2004]. The mechanism behind this response is unknown. To date, a limited number of persons, incl infants, have been treated.
Allogeneic bone marrow transplantation in transfusion-dependent persons who are resistant to IFN therapy.	Successful transplantation described in 11 of 13 children [Ayas et al 2002, Miano et al 2019]
Splenectomy should be cautiously considered as is recommended for non-transfusion-dependent thalassemia [Taher et al 2013].	Splenectomy is of unproven value & has not been studied systematically; it failed to ↑ hemoglobin levels & also may → thromboembolic complications. Expert opinion by European Haematology Assoc suggested reserving splenectomy for painful splenomegaly, symptomatic thrombocytopenia, or leukopenia [Iolascon et al 2017].
Iron overload	Iron chelators as necessary	Iron overload therapy should follow guidelines used for non-transfusion-dependent thalassemia [Taher et al 2017].
Biliary stones	Laparoscopic cholecystectomy
Scoliosis	Treatment per orthopedist
Osteoporosis	Calcium & vitamin D supplementation
Extramedullary hematopoiesis (EMH)	Regular blood transfusions to suppress EMH, surgical debulking, or low-dose radiation	Treatment as recommended in non-transfusion-dependent thalassemia [Taher et al 2017]
Vision issues	Treatment per ophthalmologist

Manifestation/
Concern

Treatment

Considerations/Other

Anemia

Intramuscular or subcutaneous injections of IFN- _α2a or IFN- _α2b given 2-3x/wk or peginterferon-_α2b 1x/wk [Abu-Quider et al 2020]
Treatment should be given by a physician experienced in IFN administration.

Treatment ↑ hemoglobin & ↓ iron overload in majority of those treated [Lavabre-Bertrand et al 2004]. The mechanism behind this response is unknown. To date, a limited number of persons, incl infants, have been treated.

Allogeneic bone marrow transplantation in transfusion-dependent persons who are resistant to IFN therapy.

Successful transplantation described in 11 of 13 children [Ayas et al 2002, Miano et al 2019]

Splenectomy should be cautiously considered as is recommended for non-transfusion-dependent thalassemia [Taher et al 2013].

Splenectomy is of unproven value & has not been studied systematically; it failed to ↑ hemoglobin levels & also may → thromboembolic complications.
Expert opinion by European Haematology Assoc suggested reserving splenectomy for painful splenomegaly, symptomatic thrombocytopenia, or leukopenia [Iolascon et al 2017].

Iron overload

Iron chelators as necessary

Iron overload therapy should follow guidelines used for non-transfusion-dependent thalassemia [Taher et al 2017].

Biliary stones

Laparoscopic cholecystectomy

Scoliosis

Treatment per orthopedist

Osteoporosis

Calcium & vitamin D supplementation

Extramedullary
hematopoiesis
(EMH)

Regular blood transfusions to suppress EMH, surgical debulking, or low-dose radiation

Treatment as recommended in non-transfusion-dependent thalassemia [Taher et al 2017]

Vision issues

Treatment per ophthalmologist

From: Congenital Dyserythropoietic Anemia Type I

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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