Diamond Blackfan syndrome
How is it treated?
Rarely, some individuals will have a spontaneous remission, in which
the red cell production switches back on, but this is uncommon, and is
impossible to predict.
Treatment for DBA can be with medication (steroids), blood transfusion, bone marrow transplantation or use of cord blood which is a rich source of the bone marrow stem cells from an unaffected sibling identified prenatally. However, these options need to be discussed in detail with the child's specialist.
How is it diagnosed?
| Inheritance patterns and prenatel diagnosis ![]()