Diamond-Blackfan anemia 6

Diamond-Blackfan anemia 6 is a rare type of Diamond-Blackfan anemia. In this condition, people have a mutation in the RPL5 gene which affects the production of red blood cells. This leads to a form of anemia that is present from birth, and it is one of several types of Diamond-Blackfan anemia that share similar features but have different genetic causes. The understanding of this condition comes from studies of the RPL5 gene. Research in this area has helped clarify that the mutation in RPL5 disrupts normal red blood cell development, distinguishing Diamond-Blackfan anemia 6 from other types. This summary focuses on the basic genetic understanding of the disease as provided by trusted sources.

Information about symptoms is currently limited for this condition.

Diamond-Blackfan anemia 6 is caused by a mutation in the RPL5 gene. This genetic change interferes with the normal production of red blood cells that are needed to carry oxygen throughout the body.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.