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

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

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

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. 

Hi Cherieann,

You're a star! Hehe. I find it very interesting that both parents carry the same mutation and I would have to assume that thalassemia trait is more common in Polynesia than previously thought.

To those who don't quite understand what the article says, Cherieann has two identical beta gene mutations. The gene is normal until a certain point on the gene where the beginning of the gene is replicated. At this point, the usefulness of the beta gene ends, thereby limiting the amount of good beta globin being produced by each gene. This results in a beta+ mutation, where some useful hemoglobin can be produced, leading to a not as severe thalassemia major. Transfusion is still required but Cherieann's blood demands are somewhat lessened by her body's ability to produce some useful hemoglobin.

We really do have a group of unique people, right down to the uniqueness of their gene mutations.