Diamond blackfan anemia steroid treatment

Diamond Blackfan Anemia (DBA) was first recognized as a distinct entity in 1938, although it was called “congenital hypoplastic anemia” at that time. Diamond Blackfan Anemia (“DBA”) is a rare inherited bone marrow failure syndrome, characterized by a failure of the bone marrow (the center of the bone where blood cells are made) to produce red blood cells. This failure causes DBA patients to become severely anemic. It is important to note that this anemia is not the result of a deficiency in iron, vitamin B-12, folate, or erythropoietin, which is a blood cell stimulating factor. Although a number of theories regarding the cause of DBA have been proposed, it is now widely accepted that DBA is a ribosomal protein disease. The disorder results from an intrinsic progenitor cell defect in which erythroid progenitors and precursors are highly sensitive to death by apoptosis (self-destruction).

A girl named Audrey Nethery of Louisville, Kentucky has a large online following from her singing and dancing videos and has brought public attention to the very rare disease. [31] [32] "The tiny dancer’s zest for the feel-happy, cool move packed, music pumping workout ( Zumba ) has inspired millions of people to fall in love with her. Subsequently, all the unexpected attention on Audrey has given her family a great opportunity to raise much needed awareness and funds for Diamond Blackfan Anemia (DBA)." [33] [ citation needed ]

Is DBA Genetic?
In most instances, there is only one DBA patient in the family. In these cases, DBA may or may not be genetic. In approximately 10% of cases, there is more than one affected family member. For example, there could be more than one affected sibling or both a parent and a child affected. Where there is more than one family member affected, DBA is likely genetic in that family. To date, several DBA genes have been identified. RPS19, the most common genetic mutation associated with DBA, is present in approximately ~25% of DBA patients. Other gene mutations that have been identified include RPL5 (~7%), RPL11 (~5%), RPL35a (~3%), RPS26 (~3-6%), RPS24 (~2%), RPS17 (~1%), RPS7 (~1%), RPS10 (~3-6%), RPL19 (unknown), RPL26 (unknown), RPS29 (unknown), RPL31 (unknown), and GATA1 (unknown). Scientists in the United States and worldwide are currently looking for other genetic mutations which may be associated with DBA.

Diamond blackfan anemia steroid treatment

diamond blackfan anemia steroid treatment


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