Rare thalassaemia mutation discovered.....this article is about me!

[caraiti]

Both articles are the same just found in different sites. As I don't know the links it was easier to copy and paste.

1: Br J Haematol. 2005 Nov;131(3):400-2. Links
Novel sequence insertion in a Mâori patient with transfusion-dependent beta-thalassaemia.
Blacklock HA, Case J, Chan T, Raizis T, Doocey R, Fellowes A, Royle G, Jackson S, Brennan S, George P.
Department of Haematology, Middlemore Hospital, Private Bag, Auckland, New Zealand. Hblacklock@middlemore.co.nz

Although beta-thalassaemia is common throughout the world, it has not been previously described in Polynesia. We report a novel sequence insertion where homozygosity for the defect results in transfusion-dependent anaemia. The repeated 45 base pair (bp) insertion causes duplication of the start codon and consequent transcription from the original initiation code would be predicted to lead to the production of an irrelevant seven-residue peptide, while residual translation from the novel initiation site would result in diminished yields of beta-globin and consequent clinical beta(+)-thalassaemia.
PMID: 16225661 [PubMed - indexed for MEDLINE]

Title: Novel sequence insertion in a Maori patient with transfusion-dependent beta-thalassaemia
Author(s): Blacklock HA, Case J, Chan T, Raizis T, Doocey R, Fellowes A, Royle G, Jackson S, Brennan S, George P Source: BRITISH JOURNAL OF HAEMATOLOGY 131 (3): 400-402 NOV 2005 Document Type: Article Language: English Cited References: 4      Times Cited: 2

Abstract: Although beta-thalassaemia is common throughout the world, it has not been previously described in Polynesia. We report a novel sequence insertion where homozygosity for the defect results in transfusion-dependent anaemia. The repeated 45 base pair (bp) insertion causes duplication of the start codon and consequent transcription from the original initiation code would be predicted to lead to the production of an irrelevant seven-residue peptide, while residual translation from the novel initiation site would result in diminished yields of beta-globin and consequent clinical beta(+)-thalassaemia.

Addresses: Blacklock HA (reprint author), Middlemore Hosp, Dept Haematol, Private Bag 93311, Auckland 6, New Zealand
Middlemore Hosp, Dept Haematol, Auckland 6, New Zealand
Canterbury Hlth Labs, Mol Pathol Lab, Christchurch, New Zealand
Publisher: BLACKWELL PUBLISHING, 9600 GARSINGTON RD, OXFORD OX4 2DQ, OXON, ENGLAND Subject Category: Hematology IDS Number: 975JD
ISSN: 0007-1048


I remember the extra bloods taken from both me and my birth parents and sent to Prince Albert Hospital in Australia. They couldn't understand the weight of my DNA until closer inspection which made them discover the insert.
This was discovered in 2005. 

[smartusha]

AMAZING.......

By the way, at what age did you come to know that you have thalassemia? How did you cope with that?

[caraiti]

The Thalassaemia was discovered when I was admitted to hospital with a high fever as a baby.
After many blood samples being sent around the world, the verdict was Thalassaemia but the many doctors couldn't decide on which severity. By the age of two years old it was diagnosed as intermedia.
As to your other question about how I felt....
I was too young to understand and as I grew it just became a part of my life.
I don't know what life is without needles and hospitals so to me this is a normal life.
At times it was fustrating to be sent to bed at 4pm so that my desferal was administered on time so that it would finish by 7 the next morning but you get use to it. Over the years I have learnt many ways to cope with the Thalassaemia in a way so that my limits are not noticable.
I have a wonderful Haemotologist who allows me to contribute to my clinical management.
This has helped me to be an active participant and feel like a person and not a pin cushion
I'm a very happy patient who enjoys life and the bumps along the way