People News

A Blood Transfusion Every Month Just To Stay Alive

2.5 from 2 votes
Thursday, March 07, 2019

Family, friends and nursery staff are teaming up to help a North Yorkshire toddler with two life-threatening conditions. 

Two year old Archie Flintoft suffers from the rare genetic condition called Diamond Blackfan Anaemia, or DBA.  In fact, he is one of only approximately 125 people with it in the UK. It means Archie's bone marrow doesn't produce red blood cells.

Archie was diagnosed with DBA, at 10 weeks, after his parents became concerned that he was looking pale and lifeless.

He needed a blood transfusion straight away and now receives one every month. As a result, iron starts to build up in Archie's body.  If not treated, iron would start to attack his organs starting with the liver and heart and ultimately would be fatal.

Following steroid therapy he received last year, Archie also suffers from a secondary life threatening condition leaving him dependent on steroids just to stay alive.

His family are teaming up with friends and staff from Coppice Valley Nursery in Harrogate to support one of the only charity funding research into treatments.

Archie's Army will take on this year's Great North Run.  They hope to raise money for a charity, DBA UK, which helps people affected by the disease.

It is hoped they may one day be able to find a cure.

 About Diamond-Blackfan anemia:

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).

Most DBA patients are diagnosed within the first year of life. Potentially, DBA patients can live long and healthy lives with appropriate medical treatment. The two most common forms of treatment are blood transfusion therapy and corticosteroid medication. Some DBA patients are in remission and need no medical treatment related to their DBA. Other DBA patients may choose to undergo the risky procedure of a stem cell transplant (also referred to as a bone marrow transplant).

The scientific community has discovered numerous ribosomal gene mutations and most recently, non-ribosomal protein gene mutations. These are very exciting discoveries for the DBA community, as it has resulted in increased scientific attention to this rare disorder. Advances in whole exom sequencing are expected to advance additional gene mutation discoveries.


Source: minsterfm
2.5 from 2 votes
Free Newsletter
by Abidemi Uruejoma
by Abidemi Uruejoma